Microcephalic Primordial Dwarfism and Slender bone dysplasias
Gene: FAM111A
FAM111A (family with sequence similarity 111 member A)
EnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 13 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Gracile bone dysplasia 602361
- Kenny-Caffey syndrome, type 2 127000
- OMIM
- 615292
- Clinvar variants
- Variants in FAM111A
- Penetrance
- None
- 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
2 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: FAM111A was added gene: FAM111A was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111A were set to Gracile bone dysplasia 602361; Kenny-Caffey syndrome, type 2 127000