Clefting
Gene: HYLS1

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Confirmed DD-G2P gene for Hydrolethalus syndrome, MIM:236680, which can include clefting. At least 3 papers where clefting is highlighted as part of Hydrolethalus syndrome. Note that only 1 recorded variant, and syndrome is prevalent in Finland. PMID 22029171 from 2011 report an additional case in a Romanian family with features of hydrolethalus syndrome, but sequence analysis of HYLS1 did not identify mutations.
Created: 31 May 2017, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)

Publications

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hydrolethalus syndrome, 236680 (includes Cleft palate, Lateral or midline cleft lip, Lower lip cleft)

OMIM

610693

Clinvar variants

Variants in HYLS1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

HYLS1 was added to Cleftingpanel. Sources: Expert Review Green

31 May 2017, Gel status: 0

Created