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Gene: PCYT1A

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction

HGNC approved symbol/name: PCYT1A
Is the phenotype(s) severe and onset <18yo? Y
Created: 20 Jan 2025, 4:55 a.m. | Last Modified: 20 Jan 2025, 4:55 a.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940

Publications

Created: 20 Jan 2025, 4:55 a.m.
Last Modified: 20 Jan 2025, 4:55 a.m.
Panel version: 1.1235

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940
OMIM
123695
Clinvar variants
Variants in PCYT1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pcyt1a has been classified as Green List (High Evidence).

20 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) to Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PCYT1A were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCYT1A was added gene: PCYT1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)