MKS1

Meckel syndrome, type 1
OMIM: 609883
PanelMode of inheritanceDetails
13 panels
R-numbers: R107
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13, 615990, Meckel syndrome 1, 249000, Joubert syndrome 28, 617121
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 1, 249000, MKS1, Meckel-Gruber Syndrome (MGS)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MECKEL SYNDROME TYPE 1 249000, BARDET-BIEDL SYNDROME TYPE 13 209900
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 13, MECKEL SYNDROME TYPE 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MECKEL SYNDROME TYPE 1 (MKS1)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28, 617121, Polydactyly
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
occipital encephalocele, Joubert syndrome, Bardet-Biedl syndrome, Joubert syndrome 28, 249000, polydactyly, polycystic kidneys, Meckel-Gruber syndrome, Meckel syndrome, renal fibrosis
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
occipital encephalocele, Joubert syndrome, Bardet-Biedl syndrome, Joubert syndrome 28, 249000, polydactyly, polycystic kidneys, Meckel-Gruber syndrome, Meckel syndrome, renal fibrosis
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
occipital encephalocele, Joubert syndrome, Bardet-Biedl syndrome, Joubert syndrome 28, 249000, polydactyly, polycystic kidneys, Meckel-Gruber syndrome, Meckel syndrome, renal fibrosis
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders
R-numbers: R149
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Bardet-Biedl syndrome 13, 615990, Bardet-Biedl syndrome 13
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 1 249000, Bardet-Biedl syndrome 13 615990
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000