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Usher Syndrome

Gene: PDZD7

Amber List (moderate evidence)
PDZD7 (PDZ domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000186862
EnsemblGeneIds (GRCh37): ENSG00000186862
OMIM: 612971, Gene2Phenotype
PDZD7 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Association with deafness: Multiple families reported, supportive functional data, including animal model. DEFINITIVE by ClinGen.

Association with Usher syndrome: only reported in conjunction with other Usher syndrome variants, digenic inheritance model proposed, PMID: 20440071
Created: 2 Oct 2020, 10:15 a.m. | Last Modified: 3 Oct 2020, 4:33 a.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472; Deafness, autosomal recessive 57, MIM# 618003

Publications

Created: 2 Oct 2020, 10:15 a.m.
Last Modified: 3 Oct 2020, 4:33 a.m.
Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472
OMIM
612971
Clinvar variants
Variants in PDZD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdzd7 has been classified as Amber List (Moderate Evidence).

3 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDZD7 were set to

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdzd7 has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDZD7 was added gene: PDZD7 was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDZD7 were set to Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472