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Intellectual disability

Gene: PISD

No list

PISD (phosphatidylserine decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000241878
EnsemblGeneIds (GRCh37): ENSG00000241878
OMIM: 612770, Gene2Phenotype
PISD is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Sources: Expert list
Created: 12 Feb 2020, 9:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; cataract; microcephaly; deafness; skeletal dysplasia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • intellectual disability
  • cataract
  • microcephaly
  • deafness
  • skeletal dysplasia
OMIM
612770
Clinvar variants
Variants in PISD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PISD was added gene: PISD was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 31263216; 30858161 Phenotypes for gene: PISD were set to intellectual disability; cataract; microcephaly; deafness; skeletal dysplasia Review for gene: PISD was set to GREEN