PDZD7

PDZ domain containing 7
OMIM: 612971, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green PDZD7 in Mendeliome Version 1.2512	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 57, MIM# 618003 Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472
Green PDZD7 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.214	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 57, MIM# 618003
Amber PDZD7 in Usher Syndrome Level 2: Ophthalmological disorders Version 1.5 Component of the following Super Panels: Retinal Disorders Superpanel	review	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
Green PDZD7 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Deafness, autosomal recessive 57, MIM# 618003
Green PDZD7 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome
Green PDZD7 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.117	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Deafness, autosomal recessive 57, MIM# 618003 Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472 Tags deafness