Ectodermal dysplasia (Version: )

Relevant disorders: R163
Signed off date: 23 Jun 2022
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
36 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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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/Agene-checked
Green
BIALLELIC, autosomal or pseudoautosomalN/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, biallelic mutations in femalesN/AN/A
Green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherQ1_22_MOI
Green
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/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
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, biallelic mutations in femalesN/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 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, imprinted status unknownN/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, imprinted status unknownN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A