MKKS

Red MKKS in Glaucoma (developmental)

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

Sources

• NHS GMS
• Emory Genetics Laboratory

Phenotypes

• Eye Disorders

Green MKKS 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 6, OMIM:605231

Red MKKS in Thoracic dystrophies

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

Sources

• Emory Genetics Laboratory

Green MKKS in Limb disorders

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly
• Bardet-Biedl syndrome 6, 605231
• McKusick-Kaufman syndrome, 236700

No list MKKS 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

• Bardet-Biedl syndrome 6 (605231)

Tags

• curated_removed

Green MKKS 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 6, 605231
• McKusick-Kaufman syndrome, 236700

Red MKKS in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Green MKKS in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory

Phenotypes

• Polydactyly
• Bardet-Biedl syndrome 6, 605231
• McKusick-Kaufman syndrome, 236700

Green MKKS in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• NHS GMS

Phenotypes

• Bardet Biedl syndrome 6
• 236700

Green MKKS in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 6
• MCKUSICK-KAUFMAN SYNDROME

Green MKKS in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• BARDET-BIEDL SYNDROME TYPE 6 209900
• MCKUSICK-KAUFMAN SYNDROME 236700

Red MKKS in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert

Green MKKS in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900
• MCKUSICK-KAUFMAN SYNDROME (MKKS)

Green MKKS in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Eye Disorders

Red MKKS in Structural eye disease

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

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• 236700
• Bardet-Biedl syndrome 6
• 605231
• McKusick-Kaufman syndrome
• Eye Disorders

Green MKKS in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.170

Sources

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

Phenotypes

• Bardet‐Biedl syndrome 6
• 236700

Red MKKS in Groopman et al 2019 - Genes with diagnostic variants

Version 0.8

Sources

• Expert Review Red
• Expert review red
• Literature

Phenotypes

• MIM 605231
• Nephropathy of unknown origin
• Bardet-Biedl syndrome 6

Green MKKS in Ophthalmological ciliopathies

Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Bardet Biedl syndrome 6
• 236700

Green MKKS 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

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

Phenotypes

• Bardet Biedl syndrome 6
• 236700

No list MKKS in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Bardet Biedl syndrome 6
• 236700

Tags

• curated_removed

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

Version 3.75
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green MKKS in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• McKusick-Kaufman syndrome, 236700
• Bardet-Biedl syndrome 6, 605231