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  3. PISD
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Intellectual disability

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

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Four families presenting a DD/ID phenotype, but three share the same founder variant - Rating Amber until further cases are reported (added to watchlist).
Created: 19 Aug 2020, 2:15 p.m. | Last Modified: 19 Aug 2020, 2:15 p.m.
Panel Version: 3.257
Associated with Liberfarb syndrome in OMIM, but not in G2P.

PMID: 31263216 (2019) - In two sets of brothers from unrelated consanguineous families, sequencing revealed homozygosity for a 10-bp deletion (c.904-12_904-3delCTATCACCAC) in the PISD gene. The patients presented with Liberfarb syndrome, characterised by early-onset retinal degeneration, skeletal dysplasia, short stature, microcephaly, and hearing loss. Developmental delay and intellectual deficits were apparent in all individuals by school age. Authors noted phenotypic overlap (including mild-moderate ID) with another previously described case (PMID: 3561949 (1986)), prompting follow-up investigation using paraffin-embedded tissue which yielded an identical homozygous variant. Haplotype analysis indicated a founder effect between all five individuals.

PMID: 30858161 (2019) - Two sisters with progressive short stature, skeletal dysplasia, white matter abnormalities, congenital cataracts, sensorineural hearing loss, and mild global developmental delay, associated with compound heterozygous variants (c.830G>A and c.697+5G>A) in the PISD gene.

PMID: 30488656 (2019) - Two unrelated individuals with an 'unclassifiable' form of spondyloepimetaphyseal dysplasia, as well as short stature, microcephaly, mild facial dysmorphism. Vision, hearing, and psychomotor development were reported to be normal for both patients. WES identified the same homozygous missense variant (c.797G>A) in PISD in both patients. Analysis revealed a common haplotype, which indicated remote consanguinity. Supporting functional data using patient-derived fibroblasts.
Created: 19 Aug 2020, 2:09 p.m. | Last Modified: 19 Aug 2020, 2:09 p.m.
Panel Version: 3.256

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liberfarb syndrome, 618889

Publications

Created: 19 Aug 2020, 2:09 p.m.
Last Modified: 19 Aug 2020, 2:09 p.m.
Panel version: 3.256

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

Created: 12 Feb 2020, 9:33 a.m.

Panel version: 3.0

Details

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

History Filter Activity

19 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

19 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: PISD.

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