Brain Calcification
Gene: FAM111AEnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 13 panels
1 review
Yetong Chen (University of Melbourne)
PMID 32734340 reports 3 unrelated patients with FAM111A variants who developed calcification in the basal ganglia. Co-segregation is supported by pedigrees that contain parents and unaffected siblings.
PMID 35205306 reports a patient with a novel FAM111A variant who developed calcification in the basal ganglia and the thalamic region. The FAM111A variant caused Osteocraniostenosis (OCS, OMIM #602361), which is an allelic disorder sharing some common features with Kenny-Caffey syndrome.
Sources: Expert listCreated: 4 Apr 2023, 4:50 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
- Phenotypes
-
- Kenny-Caffey syndrome, type 2, MIM# 127000
- OMIM
- 615292
- Clinvar variants
- Variants in FAM111A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal Dysplasia_Fetal
- Calcium and Phosphate disorders
- Anophthalmia_Microphthalmia_Coloboma
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- 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
Yetong Chen (University of Melbourne)gene: FAM111A was added gene: FAM111A was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111A were set to 32734340; 23996431; 35205306 Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000 Review for gene: FAM111A was set to GREEN