This Panel is marked as Internal
Non-Fanconi anaemia
Gene: MKS1
MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
1 review
Helen Savage (Congenica Ltd)
Phenotypes
Meckel syndrome
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- Complete
- Panels with this gene
-
- Familial Neural Tube Defects
- Retinal disorders
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Intellectual disability
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
- Skeletal dysplasia
- Skeletal ciliopathies
- Clefting
- VACTERL-like phenotypes
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Severe early-onset obesity
- Limb disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MKS1 was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MKS1 was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory