Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

Gene: PDZD8

Green List (high evidence)

PDZD8 (PDZ domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000165650
EnsemblGeneIds (GRCh37): ENSG00000165650
OMIM: 614235, Gene2Phenotype
PDZD8 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals from two unrelated families, Drosophila and mouse models support gene-disease association.
Sources: Literature
Created: 1 Sep 2022, 11:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021
OMIM
614235
Clinvar variants
Variants in PDZD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdzd8 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdzd8 has been classified as Green List (High Evidence).

1 Sep 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDZD8 was added gene: PDZD8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: PDZD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDZD8 were set to 35227461 Phenotypes for gene: PDZD8 were set to Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021 Review for gene: PDZD8 was set to GREEN