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  3. PCYT1A
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Lipodystrophy_Lipoatrophy

Gene: PCYT1A

Amber List (moderate evidence)
PCYT1A (phosphate cytidylyltransferase 1, choline, alpha)
EnsemblGeneIds (GRCh38): ENSG00000161217
EnsemblGeneIds (GRCh37): ENSG00000161217
OMIM: 123695, Gene2Phenotype
PCYT1A is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with bi-allelic LoF variants, and lipodystrophy, fatty liver, severe insulin resistance, and diabetes.

Note bi-allelic variants in this gene are also associated with a skeletal dysplasia with cone-rod dystrophy.
Created: 27 Apr 2021, 8:52 a.m. | Last Modified: 27 Apr 2021, 8:52 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, congenital generalized, type 5, MIM# 620680

Publications

Created: 27 Apr 2021, 8:52 a.m.
Last Modified: 27 Apr 2021, 8:52 a.m.
Panel version: 1.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Lipodystrophy, congenital generalized, type 5, MIM# 620680
OMIM
123695
Clinvar variants
Variants in PCYT1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCYT1A were changed from Congenital lipodystrophy; fatty liver disease to Lipodystrophy, congenital generalized, type 5, MIM# 620680

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt1a has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCYT1A were changed from to Congenital lipodystrophy; fatty liver disease

27 Apr 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCYT1A were set to

27 Apr 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PCYT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt1a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCYT1A was added gene: PCYT1A was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCYT1A was set to Unknown