Laterality disorders and isomerism
Gene: DNAH8

DNAH8 (dynein axonemal heavy chain 8)
EnsemblGeneIds (GRCh38): ENSG00000124721
EnsemblGeneIds (GRCh37): ENSG00000124721
OMIM: 603337, Gene2Phenotype
DNAH8 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: DNAH8; Suggested initial gene rating: Amber; Evidence for inclusion: Reported cause of PCD; heterotaxy unknown (Hum Mutat. 2014 Apr;35(4):434-41.); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Sources

Expert Review Amber
NHS GMS

OMIM

603337

Clinvar variants

Variants in DNAH8

Penetrance

None

Panels with this gene

History Filter Activity

5 Dec 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to DNAH8. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance