Skeletal dysplasia (Version: )

Relevant disorders: Unexplained skeletal dysplasia, Skeletal dysplasia, R104
Signed off date: 13 Feb 2020
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
386 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Anew-gene-name
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion
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BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypemosaicism
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X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amicrodeletion
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-misc
Green
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-rna-small-nuclear
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A