Lipodystrophy - childhood onset

Gene: POC1A

Amber List (moderate evidence)

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 11 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As recommended by the NHS, there is sufficient evidence (9 unrelated cases) in support of the association of this gene with severe dyslipidaemic insulin resistance. Hence, this gene can be promoted to green rating at the next GMS review.
Created: 7 Aug 2023, 11:28 a.m. | Last Modified: 7 Aug 2023, 11:28 a.m.
Panel Version: 4.27
This gene was added on recommendation of NHSE Genomic Medicine Service:
9 unrelated probands with SHORT syndrome with severe dyslipidaemic insulin resistance are known, this represents 26% of all known cases (PMID: 35234134, 26336158, 28819016, 33372278, 22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases). Along with ALMS1 and POC1A it is part of a cluster of genes that cause severe insulin resistance syndromes and affect the centrosome/primary cillium though the precise mechanistic basis for the impairment in insulin action is unclear.
Created: 2 Aug 2023, 11:35 a.m. | Last Modified: 7 Aug 2023, 11:22 a.m.
Panel Version: 4.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SOFT syndrome, Severe insulin resistance

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813
  • Insulin resistance, HP:0000855
Tags
Q3_23_promote_green Q3_23_NHS_review
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2023, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: POC1A. Tag Q3_23_NHS_review tag was added to gene: POC1A.

7 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: poc1a has been classified as Amber List (Moderate Evidence).

7 Aug 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: POC1A were changed from SOFT syndrome, Severe insulin resistance to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, OMIM:614813; Insulin resistance, HP:0000855

7 Aug 2023, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: POC1A were set to

2 Aug 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: POC1A was added gene: POC1A was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POC1A were set to SOFT syndrome, Severe insulin resistance