Calcium and Phosphate 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_CalcPhos v38.1.0
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fam111a has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: FAM111A were changed from to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: FAM111A were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: FAM111A was set to Unknown