Skeletal Dysplasia_Fetal
Gene: FAM111A

FAM111A (family with sequence similarity 111 member A)
EnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. Prenatal presentation reported.
Sources: Literature
Created: 28 Dec 2020, 7:34 a.m. | Last Modified: 5 Nov 2021, 1:59 a.m.

Panel Version: 0.132

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kenny-Caffey syndrome, type 2, MIM# 127000

Publications

Created: 28 Dec 2020, 7:34 a.m.
Last Modified: 5 Nov 2021, 1:59 a.m.
Panel version: Imported from Fetal anomalies panel version 0.132

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Genomics England PanelApp
Literature
Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

615292

Clinvar variants

Variants in FAM111A

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM111A was added gene: FAM111A was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM111A was set to Unknown

Skeletal Dysplasia_Fetal Gene: FAM111A