Neonatal cholestasis

Gene: MKS1

Amber List (moderate evidence)

MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 29 panels

3 reviews

Anna de Burca (Genomics England Curator)

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 617121
Created: 25 Jul 2018, 12:28 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckle-Gruber syndrome

History Filter Activity

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: mks1 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: mks1 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: mks1 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MKS1 were set to Meckel syndrome 1 249000

25 Jul 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MKS1. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MKS1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MKS1 was created by Ellen McDonagh