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  3. POC1A
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Microcephaly

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.
Sources: Expert list
Created: 3 Sep 2020, 2:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Sep 2020, 2:25 a.m.

Panel version: 0.384

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

3 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: poc1a has been classified as Green List (High Evidence).

3 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POC1A were changed from to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813

3 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: poc1a has been classified as Green List (High Evidence).

3 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POC1A was added gene: POC1A was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POC1A were set to 22840364; 22840363; 26374189; 26162852; 26791357