MKS1

Red MKS1 in Familial Neural Tube Defects

Version 1.10

Sources

• Expert Review Red
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Meckel Syndrome

Red MKS1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Amber MKS1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Amber
• Victorian Clinical Genetics Services
• Emory Genetics Laboratory

Phenotypes

• Meckel syndrome 1 249000

Green MKS1 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert list
• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Obesity
• Bardet-Biedl syndrome 13, OMIM:615990

Red MKS1 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

Sources

• Emory Genetics Laboratory

Red MKS1 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

Sources

• Emory Genetics Laboratory

Green MKS1 in Limb disorders

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Emory Genetics Laboratory
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN
• London South East RGC GSTT
• Viapath

Phenotypes

• Bardet-Biedl syndrome 13 615990
• Meckel syndrome 1 249000
• Joubert syndrome 28, 617121
• Polydactyly

No list MKS1 in Ductal plate malformation

Version 1.29

Sources

• Expert Review Removed
• UKGTN
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Joubert syndrome 28 (617121)
• Bardet-Biedl syndrome 13 (615990)
• Meckel syndrome 1 (249000)

Tags

• curated_removed

Green MKS1 in Bardet Biedl syndrome

Version 2.4
Latest signed off version: v2.0 (30 Nov 2022)

Sources

• NHS GMS
• Other
• Expert Review Green

Phenotypes

• Bardet-Biedl syndrome 13, 615990
• Meckel syndrome 1, 249000
• Joubert syndrome 28, 617121

Red MKS1 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red MKS1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Red
• Expert

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red MKS1 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green MKS1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Emory Genetics Laboratory

Phenotypes

• Meckel syndrome 1 249000
• Bardet-Biedl syndrome 13 615990

Green MKS1 in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Bardet-Biedl syndrome 13 615990
• Meckel syndrome 1 249000

Green MKS1 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 13
• MECKEL SYNDROME TYPE 1

Green MKS1 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MECKEL SYNDROME TYPE 1 249000
• BARDET-BIEDL SYNDROME TYPE 13 209900

Green MKS1 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Meckel syndrome 1, 249000
• MKS1
• Meckel-Gruber Syndrome (MGS)

Green MKS1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• MECKEL SYNDROME TYPE 1 (MKS1)

Green MKS1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders

Red MKS1 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• Bardet-Biedl syndrome 13, 615990
• Meckel syndrome 1, 249000
• Eye Disorders

Green MKS1 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171

Sources

• Eligibility statement prior genetic testing
• Other
• Orphanet
• Expert Review Green
• Expert list

Phenotypes

• Meckel-Gruber syndrome
• Meckel syndrome
• Bardet-Biedl syndrome
• occipital encephalocele
• polycystic kidneys
• renal fibrosis
• polydactyly
• Joubert syndrome
• Meckel-Gruber syndrome
• 249000
• Joubert syndrome 28

Green MKS1 in Ophthalmological ciliopathies

Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Orphanet
• Eligibility statement prior genetic testing
• Expert list
• Expert Review Green
• Other

Phenotypes

• occipital encephalocele
• Joubert syndrome
• Bardet-Biedl syndrome
• Joubert syndrome 28
• 249000
• polydactyly
• polycystic kidneys
• Meckel-Gruber syndrome
• Meckel syndrome
• renal fibrosis

Green MKS1 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• occipital encephalocele
• Joubert syndrome
• Bardet-Biedl syndrome
• Joubert syndrome 28
• 249000
• polydactyly
• polycystic kidneys
• Meckel-Gruber syndrome
• Meckel syndrome
• renal fibrosis

Green MKS1 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Orphanet
• Eligibility statement prior genetic testing
• Expert list
• Expert Review Green
• Other

Phenotypes

• occipital encephalocele
• Joubert syndrome
• Bardet-Biedl syndrome
• Joubert syndrome 28
• 249000
• polydactyly
• polycystic kidneys
• Meckel-Gruber syndrome
• Meckel syndrome
• renal fibrosis

No list MKS1 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Orphanet
• Eligibility statement prior genetic testing
• Expert list
• Other

Phenotypes

• occipital encephalocele
• Joubert syndrome
• Bardet-Biedl syndrome
• Joubert syndrome 28
• 249000
• polydactyly
• polycystic kidneys
• Meckel-Gruber syndrome
• Meckel syndrome
• renal fibrosis

Tags

• curated_removed

Red MKS1 in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• polydactyly
• Joubert syndrome 28
• Joubert syndrome
• polycystic kidneys
• occipital encephalocele
• Meckel-Gruber syndrome
• 249000
• renal fibrosis
• Meckel syndrome
• Bardet-Biedl syndrome

Green MKS1 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Bardet-Biedl syndrome 13, 615990
• Joubert syndrome 28, 617121
• Meckel syndrome 1, 249000