Congenital hypothyroidism (Version: )

Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145
Signed off date: 25 Feb 2020
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
30 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amonogenic-polygenic, deletions
Green
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Atreatable
Green
BIALLELIC, autosomal or pseudoautosomalN/Atreatable, monogenic-polygenic
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/Amissense
Green
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
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/AN/A