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DDG2P

Gene: PISD

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function are limited, biallelic_autosomal and loss of function (PMIDs: 30488656, 30858161, 31263216, 38801004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02565.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:618889.0; MONDO:0030045; PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • OMIM:618889.0
  • MONDO:0030045
  • PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
OMIM
612770
Clinvar variants
Variants in PISD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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 DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 38801004; 31263216; 30858161; 30488656 Phenotypes for gene: PISD were set to OMIM:618889.0; MONDO:0030045; PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function