Clefting
Gene: FAM111A

FAM111A (family with sequence similarity 111 member A)
EnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Update from Clinical team. Only one case. The phenotype is sufficiently severe to present in other ways.

Created: 31 May 2017, 8:14 a.m.

Comment on publications: Only one case reports cleft lip, Verloes et al. (2005)
Created: 29 May 2017, 1:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Gracile bone dysplasia; 602361

Created: 31 May 2017, 8:14 a.m.

Panel version: 0.272

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

Gracile bone dysplasia
602361

OMIM

615292

Clinvar variants

Variants in FAM111A

Penetrance

Complete

Publications

Panels with this gene