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Skeletal dysplasia

Gene: POC1A

Green List (high evidence)

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

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