Neonatal cholestasis
Gene: MKS1EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels
3 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Although the liver anomalies associated with Meckel syndrome might be expected to result in cholestasis, this is a lethal condition which is unlikely to present with isolated cholestasis. Cholestasis is not a common feature of Bardet-Biedl syndrome or Joubert syndrome.Created: 25 Jul 2018, 2:37 p.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: The phenotypes associated in variants of MKS1 are not directly relevant to Cholestasis, as Meckel syndrome 1 249000 includes the clinical features: bile duct proliferation and dilatation.Created: 25 Jul 2018, 12:46 p.m.
Comment on phenotypes: Variants also reported in Bardet-Biedl syndrome 13 615990, Joubert syndrome 28 617121Created: 25 Jul 2018, 12:28 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckle-Gruber syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Meckel syndrome 1 249000
- OMIM
- 609883
- Clinvar variants
- Variants in MKS1
- Penetrance
- None
- Panels with this gene
-
- Severe early-onset obesity
- Familial Neural Tube Defects
- Ductal plate malformation
- Skeletal ciliopathies
- Neurological ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- VACTERL-like phenotypes
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Clefting
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: mks1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: mks1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mks1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MKS1 were set to Meckel syndrome 1 249000
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to MKS1. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)MKS1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)MKS1 was created by Ellen McDonagh