Amelogenesis imperfecta (Version: )

Relevant disorders: Amelogenesis Imperfecta, R340
Signed off date: 22 Mar 2023
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
30 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/Acnv
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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/Adeletions
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BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amonogenic-polygenic
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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BIALLELIC, autosomal or pseudoautosomalN/Adeletions
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BIALLELIC, autosomal or pseudoautosomalN/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/Amonogenic-polygenic
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/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
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A