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Skeletal dysplasia v1.284 | ARID1B | Eleanor Williams Classified gene: ARID1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.284 | ARID1B | Eleanor Williams Added comment: Comment on list classification: Keeping red for now. Associated with Coffin-Siris syndrome 1 in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails. Not classical for a skeletal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.284 | ARID1B | Eleanor Williams Gene: arid1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.219 | ARID1B |
Eleanor Williams commented on gene: ARID1B: Associated with Coffin-Siris syndrome 1 #135900 (AD) in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails. OMIM lists many cases of variants in ARID1B reported in patients with Coffin-Siris syndrome. |
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Skeletal dysplasia v1.153 | ARID1B | Eleanor Williams Added phenotypes Coffin-Siris syndrome type 1 - 135900 for gene: ARID1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | ARID1B | Tracy Lester reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Coffin-Siris syndrome type 1 - 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | ARID1B | Eleanor Williams reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | ARID1B | Eleanor Williams Source NHS GMS was added to ARID1B. |