Skeletal dysplasia

Gene: FAM111A

Green List (high evidence)

Slender bone dysplasia gp of SD. Specific recurrent de novo variants - missense and in-frame del. Not truncating variants?; Review on behalf of Tracy Lester

Created: 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

I don't know

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: Green

Created: 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 127000

Created: 28 Jul 2016, 11:26 a.m.

Green List (high evidence)

Tier 1

Created: 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