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Mendeliome

Gene: HYDIN

Green List (high evidence)

HYDIN (HYDIN, axonemal central pair apparatus protein)
EnsemblGeneIds (GRCh38): ENSG00000157423
EnsemblGeneIds (GRCh37): ENSG00000157423
OMIM: 610812, Gene2Phenotype
HYDIN is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene causes PCD without situs invertus (OMIM)

PMID: 23022101; Olbrich 2012: 2 different variants reported in 4 PCD families (One of the reported variants reported as a founder variant in 3 families). Situs invertus not a feature in the affected individuals.

PMID: 23849777; Davidson 2013: Homozygous splice variant reported in a patient with PCD and hearing loss. Reported to have similar phenotype as patients reported in Olbrich 2012

PMID: 28441829; Chen 2017: Article in chinese, abstract indicates compound heterozygous variants reported in a child with PCD
Created: 5 May 2022, 12:57 a.m. | Last Modified: 5 May 2022, 12:57 a.m.
Panel Version: 0.13774

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 5 (MIM#608647)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliary dyskinesia, primary, 5 (MIM#608647)
OMIM
610812
Clinvar variants
Variants in HYDIN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HYDIN were changed from to Ciliary dyskinesia, primary, 5 (MIM#608647)

5 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HYDIN were set to

5 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HYDIN was added gene: HYDIN was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HYDIN was set to Unknown