Cataract
Gene: PISD
PISD (phosphatidylserine decarboxylase)
EnsemblGeneIds (GRCh38): ENSG00000241878
EnsemblGeneIds (GRCh37): ENSG00000241878
OMIM: 612770, Gene2Phenotype
PISD is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000241878
EnsemblGeneIds (GRCh37): ENSG00000241878
OMIM: 612770, Gene2Phenotype
PISD is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
4 individuals in 2 unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature (Liberfarb syndrome). Affected individuals shared a homozygous 10-bp deletion immediately upstream of the last exon of the PISD gene. In HEK293T cells, this variant led to aberrant splicing of PISD transcripts. 1 family with 2 sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene. Decreased conversion of phosphatidylserine to PE in patient fibroblasts is consistent with impaired phosphatidylserine decarboxylase (PISD) enzyme activity.Created: 13 Dec 2019, 5:30 a.m. | Last Modified: 13 Dec 2019, 5:30 a.m.
Panel Version: 0.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities; no OMIM number yet.
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 612770
- Clinvar variants
- Variants in PISD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pisd has been classified as Green List (High Evidence).
13 Dec 2019, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PISD were set to
13 Dec 2019, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PISD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PISD was added gene: PISD was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PISD was set to Unknown