Hydrocephalus

Gene: HYLS1

Green List (high evidence)

HYLS1 (HYLS1, centriolar and ciliogenesis associated)
EnsemblGeneIds (GRCh38): ENSG00000198331
EnsemblGeneIds (GRCh37): ENSG00000198331
OMIM: 610693, Gene2Phenotype
HYLS1 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Recurrent missense reported to date; ASP211GLY  
Created: 25 May 2017, 2:39 p.m.
Prenatal relevance. Recurrent ASP211GLY  mutation
Created: 25 May 2017, 2:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrolethalus syndrome 236680

Mode of pathogenicity
Other

Details

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HYLS1.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

HYLS1 was added to Hydrocephaluspanel. Sources: Literature

25 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

HYLS1 was created by helen.brittain