Neonatal cholestasis
Gene: MKS1Comment 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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckle-Gruber syndrome
This panel has been subjected to extensive internal and external review.
Gene: mks1 has been classified as Amber List (Moderate Evidence).
Gene: mks1 has been classified as Amber List (Moderate Evidence).
Gene: mks1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MKS1 were set to Meckel syndrome 1 249000
Mode of inheritance for gene: MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to MKS1. Panel: Cholestasis
MKS1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
MKS1 was created by Ellen McDonagh