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Mendeliome

Gene: DNHD1

Green List (high evidence)

DNHD1 (dynein heavy chain domain 1)
EnsemblGeneIds (GRCh38): ENSG00000179532
EnsemblGeneIds (GRCh37): ENSG00000179532
OMIM: 617277, Gene2Phenotype
DNHD1 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 65, MIM# 619712

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic DNHD1 variants identified in 8 unrelated probands with asthenoteratozoospermia, reduced sperm motility and abnormal sperm morphology. DNHD1 knockout mice were infertile and had significantly reduced sperm concentration and motility rates, consistent with human individuals.
Sources: Literature
Created: 7 Jan 2022, 3:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Male infertility due to sperm motility disorder (MONDO:0018395)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spermatogenic failure 65, MIM# 619712
OMIM
617277
Clinvar variants
Variants in DNHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNHD1 were changed from Male infertility due to sperm motility disorder (MONDO:0018395) to Spermatogenic failure 65, MIM# 619712

7 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: dnhd1 has been classified as Green List (High Evidence).

7 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: dnhd1 has been classified as Green List (High Evidence).

7 Jan 2022, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: DNHD1 was added gene: DNHD1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DNHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNHD1 were set to 34932939 Phenotypes for gene: DNHD1 were set to Male infertility due to sperm motility disorder (MONDO:0018395) Review for gene: DNHD1 was set to GREEN