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  3. PISD
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Fetal anomalies

Gene: PISD

Amber List (moderate evidence)
PISD (phosphatidylserine decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000241878
EnsemblGeneIds (GRCh37): ENSG00000241878
OMIM: 612770, Gene2Phenotype
PISD is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Homozygous p.(Cys266Tyr) in 2 probands (30488656). Compound heterozygous p.(Arg277Gln) and c.697+5G>A in two siblings (30858161). Intronic founder variant c.904-12_904-3del in Portuguese population seen homozygously in 5 individuals from 3 families (31263216). Compound heterozygous p.(Ser190Leu) and p.(His267Tyr) in 1 proband (38801004).Phenotypes associated with biallelic variants: early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, skeletal dysplasia with scoliosis and short stature, congenital cataracts, brain MRI abnormalities postnatally.Sufficient evidence for gene-disease association but unclear if disorder presents prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liberfarb syndrome, MIM#618889

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Liberfarb syndrome, OMIM:618889
OMIM
612770
Clinvar variants
Variants in PISD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PISD was added gene: PISD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 30488656; 3561949; 30858161; 31263216 Phenotypes for gene: PISD were set to Liberfarb syndrome, OMIM:618889