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Hereditary Neuropathy - complex

Gene: DHH

Green List (high evidence)
DHH (desert hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000139549
EnsemblGeneIds (GRCh37): ENSG00000139549
OMIM: 605423, Gene2Phenotype
DHH is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy is part of the phenotype of this DSD.
Sources: Expert Review
Created: 20 Apr 2020, 4:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080

Publications

Created: 20 Apr 2020, 4:17 a.m.

Panel version: 0.56

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
OMIM
605423
Clinvar variants
Variants in DHH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DHH was added gene: DHH was added to Hereditary Neuropathy - complex. Sources: Expert Review Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHH were set to 31018998; 29471294; 11017805 Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080 Review for gene: DHH was set to GREEN