Clefting
Gene: SMG9
SMG9 (SMG9, nonsense mediated mRNA decay factor)
EnsemblGeneIds (GRCh38): ENSG00000105771
EnsemblGeneIds (GRCh37): ENSG00000105771
OMIM: 613176, Gene2Phenotype
SMG9 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000105771
EnsemblGeneIds (GRCh37): ENSG00000105771
OMIM: 613176, Gene2Phenotype
SMG9 is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
Currently not enough cases to be green. Only one publication to date reporting biallelic variants in SMG9 as causative of a Multiple Congenital Anomaly Syndrome - PMID 27018474 - proband with homozygous variants in this gene from family 2 was reported as having a cleft lip. Her cousin had a laryngeal cleft type 1. One sibling in family 1 died, and was reported as having a cleft lip (no records available).Created: 31 May 2017, 1:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEART AND BRAIN MALFORMATION SYNDROME; HBMS
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- HEART AND BRAIN MALFORMATION SYNDROME
- HBMS
- OMIM
- 613176
- Clinvar variants
- Variants in SMG9
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 2
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: 2
Added New Source
Ellen McDonagh (Genomics England Curator)SMG9 was added to Cleftingpanel. Sources: Expert Review Amber
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SMG9 was created by ellenmcdonagh