Heterotaxy

Gene: DNAH6

I don't know

One additional patients in a paper using whole-exome sequencing of individuals with laterality disorders and associated congenital heart defects. Single NMD variant in DNAH6 (NM_001370.2:c.6181C>T, p.R2061*), 8 Het 0 Hom in gnomAD v4. patient with at least partial situs inversus (Right-sided spleen, right sided stomach, left liver) and malformation of the great arteries. Second VUS in HYDIN (NM_001270974.2:c.8930G>A;p.(Gly2977Asp)), 12 Het, 0 Hom in gnomAD v4.

Created: 18 Sep 2024, 2:52 a.m. | Last Modified: 18 Sep 2024, 2:52 a.m.

Panel Version: 1.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
situs inversus, MONDO:0010029; transposition of the great arteries, MONDO:0000153

Publications

• 34215651

I don't know

PMID: 26918822 - zebrafish model has disrupted motile cilia and cilia length, with some body axis defects within embryos. Transfected human cells also had defective motile cilia and cilia width.
Two patients with heterotaxy, one homozygous (missense), the other heterozygous (missense), but the heterozygous carrier has an additional known PCD mutation in DNA1.

Summary: 1 convincing patient with animal model
Sources: Literature

Created: 25 May 2020, 2:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, Azoospermia

Publications

• PMID: 26918822