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Mendeliome

Gene: DNAH12

Green List (high evidence)

DNAH12 (dynein axonemal heavy chain 12)
EnsemblGeneIds (GRCh38): ENSG00000174844
EnsemblGeneIds (GRCh37): ENSG00000174844
OMIM: 603340, Gene2Phenotype
DNAH12 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Twelve individuals from 7 families and two mouse models support this association
Sources: Literature
Created: 22 May 2025, 4:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 100, MIM# 621209

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure 100, MIM# 621209
OMIM
603340
Clinvar variants
Variants in DNAH12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah12 has been classified as Green List (High Evidence).

22 May 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnah12 has been classified as Green List (High Evidence).

22 May 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAH12 was added gene: DNAH12 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DNAH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH12 were set to 39071892; 40146200 Phenotypes for gene: DNAH12 were set to Spermatogenic failure 100, MIM# 621209 Review for gene: DNAH12 was set to GREEN