Skeletal Dysplasia_Fetal
Gene: POC1AEnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 8 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Primordial dwarfism characterised by disproportionate severe short stature prenatal in onset.
Sources: Literature, Expert listCreated: 28 Sep 2022, 12:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
- OMIM
- 614783
- Clinvar variants
- Variants in POC1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: poc1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: poc1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: POC1A was added gene: POC1A was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 31630891; 31630891; 30569574 Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813 Review for gene: POC1A was set to GREEN