Lipodystrophy - childhood onset

Gene: POC1A

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 31 Dec 2025, 7:17 p.m. | Last Modified: 31 Dec 2025, 7:17 p.m.

Panel Version: 4.66

This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.

Created: 17 Jun 2024, 8:59 a.m. | Last Modified: 17 Jun 2024, 8:59 a.m.

Panel Version: 4.54

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(PMID: 35234134, 26336158, 28819016, 33372278, 22440536 see PMID: 35234134 discussion for summary of all published and unpublished cases).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

• 22440536
• 26336158
• 28819016
• 33372278
• 35234134