Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: HYDIN

Red List (low evidence)

HYDIN (HYDIN, axonemal central pair apparatus protein)
EnsemblGeneIds (GRCh38): ENSG00000157423
EnsemblGeneIds (GRCh37): ENSG00000157423
OMIM: 610812, Gene2Phenotype
HYDIN is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 2:55 p.m.
This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in HYDIN cause PCD without laterality defects/Situs Invertis. Variant flagged as Potentially Clinically Useful from PAGE study. Action taken: Demoted gene rating from Green to Red.
Created: 18 Apr 2019, 11:28 a.m.
DDG2P rating in original PAGE list: Confirmed for CILIARY DYSKINESIA, PRIMARY, 5
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

18 Apr 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: HYDIN were set to

18 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to HYDIN. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HYDIN was added gene: HYDIN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5