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Cataracts

Gene: MIP

Green List (high evidence)

MIP (major intrinsic protein of lens fiber)
EnsemblGeneIds (GRCh38): ENSG00000135517
EnsemblGeneIds (GRCh37): ENSG00000135517
OMIM: 154050, Gene2Phenotype
MIP is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cataracts; Cataract 15, multiple types, 615274

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. 3 different variants reported in OMIM associated with cataract 15, multiple types.
Created: 25 Apr 2016, 8:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataracts
  • Cataract 15, multiple types, 615274
OMIM
154050
Clinvar variants
Variants in MIP
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

MIP was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MIP was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MIP was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services