Renal Tubulopathies and related disorders
Gene: FAM111AEnsemblGeneIds (GRCh38): ENSG00000166801
EnsemblGeneIds (GRCh37): ENSG00000166801
OMIM: 615292, Gene2Phenotype
FAM111A is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Condition is characterised by impaired skeletal development with small and dense bones, short stature, ocular abnormalities, and primary hypoparathyroidism with hypocalcemia. At least 10 unrelated cases reported with de novo missense variants. Intellectual disability/developmental delay is a rare feature of the condition.Created: 20 Apr 2022, 1:15 a.m. | Last Modified: 20 Apr 2022, 1:15 a.m.
Panel Version: 0.13086
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- KidGen_Magnesium v38.1.0
- Expert Review Green
- Phenotypes
-
- autosomal dominant Kenny-Caffey syndrome MONDO:0007478
- 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
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 Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111A were set to 33010201; 32996714; 23684011; 32765931 Phenotypes for gene: FAM111A were set to autosomal dominant Kenny-Caffey syndrome MONDO:0007478