Growth failure
Gene: FAM111AEnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Note monoallelic variants in this gene are also associated with gracile bone dysplasia, but this is generally perinatal lethal.
Sources: Expert ReviewCreated: 20 Aug 2021, 2:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kenny-Caffey syndrome, type 2, MIM@ 127000
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Kenny-Caffey syndrome, type 2, MIM@ 127000
- OMIM
- 615292
- Clinvar variants
- Variants in FAM111A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Skeletal Dysplasia_Fetal
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam111a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam111a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAM111A was added gene: FAM111A was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111A were set to 32996714; 23684011 Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM@ 127000 Review for gene: FAM111A was set to GREEN