Skeletal dysplasia
Gene: FAM111A
Slender bone dysplasia gp of SD. Specific recurrent de novo variants - missense and in-frame del. Not truncating variants?; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Mode of pathogenicity
Other - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FAM111A; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
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)).Created: 2 Nov 2023, 12:21 p.m. | Last Modified: 2 Nov 2023, 12:21 p.m.
Panel Version: 4.30
Comment when marking as ready: Associated with phenotypes in OMIM and with Kenny-Caffey syndrome, type 2 127000 in G2P. Four variants reported in Gracile bone dysplasia 602361 and two in Kenny-Caffey syndrome, type 2 127000Created: 28 Jul 2016, 11:26 a.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to
Added phenotypes Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000 for gene: FAM111A
Source NHS GMS was added to FAM111A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for FAM111A were set to
Publications for FAM111A were set to 16086393
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000
Mode of inheritance for FAM111A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
FAM111A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
FAM111A was added to Unexplained skeletal dysplasiapanel. Sources:
FAM111A was created by sleigh