GMS Respiratory specialist test group 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 intial 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: 26 Nov 2018, 2:25 p.m.

Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

Details

Sources

Expert Review Amber
NHS GMS

OMIM

603337

Clinvar variants

Variants in DNAH8

Penetrance

None

Panels with this gene

History Filter Activity

26 Nov 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)

26 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance