Skeletal dysplasia
Gene: POC1A

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Over 5 unrelated families reported.
Created: 3 Sep 2020, 2:28 a.m. | Last Modified: 3 Sep 2020, 2:28 a.m.

Panel Version: 0.4151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813

Publications

Created: 3 Sep 2020, 2:28 a.m.
Last Modified: 3 Sep 2020, 2:28 a.m.
Panel version: Imported from Mendeliome panel version 0.4151

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

OMIM

614783

Clinvar variants

Variants in POC1A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POC1A was added gene: POC1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 26374189; 26162852; 26336158 Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

Skeletal dysplasia Gene: POC1A