Structural eye disease
Gene: MKKSEnsemblGeneIds (GRCh38): ENSG00000125863
EnsemblGeneIds (GRCh37): ENSG00000125863
OMIM: 604896, Gene2Phenotype
MKKS is in 19 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; 605231; 236700
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; 605231; 236700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- 236700
- Bardet-Biedl syndrome 6
- 605231
- McKusick-Kaufman syndrome
- Eye Disorders
- OMIM
- 604896
- Clinvar variants
- Variants in MKKS
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Retinal disorders
- DDG2P
- Fetal anomalies
- Severe early-onset obesity
- Ductal plate malformation
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Structural eye disease
- Monogenic hearing loss
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MKKS. Mode of inheritance for gene MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bardet-Biedl syndrome 6; 605231; McKusick-Kaufman syndrome; 236700 for gene: MKKS
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: MKKS was added gene: MKKS was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MKKS was set to Phenotypes for gene: MKKS were set to Eye Disorders