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Skeletal dysplasia v4.30 | FAM111A |
Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense variant c.976T>A (p.L326I) and maternal heterozygous in-frame deletion variant c.1714_1716del (p.Ile572del, rs779963813)). |
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Skeletal dysplasia v4.30 | FAM111A | Sarah Leigh Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v4.29 | FAM111A | Sarah Leigh Publications for gene: FAM111A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.153 | FAM111A | Eleanor Williams Added phenotypes Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000 for gene: FAM111A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | FAM111A | Tracy Lester reviewed gene: FAM111A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Gracile bone dysplasia 602361, Kenny-Caffey syndrome, type 2 127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | FAM111A | Eleanor Williams reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | FAM111A |
Eleanor Williams Source NHS GMS was added to FAM111A. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Skeletal dysplasia | FAM111A | Louise Daugherty commented on FAM111A |