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Severe Paediatric Disorders v1.176 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)).
Severe Paediatric Disorders v1.176 FAM111A Sarah Leigh Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v1.175 FAM111A Sarah Leigh Publications for gene: FAM111A were set to 30847515
Severe Paediatric Disorders v0.17 FAM111A Louise Daugherty Mode of inheritance for gene FAM111A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 FAM111A Louise Daugherty reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 FAM111A Louise Daugherty Publications for gene FAM111A were updated from to 30847515
Severe Paediatric Disorders v0.10 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.9 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.9 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.8 FAM111A Louise Daugherty Added phenotypes Gracile bone dysplasia, 602361; Kenny-Caffey syndrome, type 2, 127000 for gene: FAM111A
Severe Paediatric Disorders v0.7 FAM111A Louise Daugherty Source Next Generation Children Project was added to FAM111A.
Severe Paediatric Disorders v0.5 FAM111A Louise Daugherty Source Expert Review Green was added to FAM111A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 FAM111A Louise Daugherty gene: FAM111A was added
gene: FAM111A was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: FAM111A was set to