Bilateral congenital or childhood onset cataracts
Gene: MFSD6L

MFSD6L (major facilitator superfamily domain containing 6 like)
EnsemblGeneIds (GRCh38): ENSG00000185156
EnsemblGeneIds (GRCh37): ENSG00000185156
MFSD6L is in 1 panel

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Homozygous mutation reported in 1 family with AR paediatric cataracts. Not much known about the function of this protein.
Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
Unknown

Phenotypes
Neuronal ceroid lipofucinosis

Publications

Aldahmesh (2012) Genet Med 14(12):955-962

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

Created: 25 May 2016, 8:11 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Added to the red list due to expert review.
Created: 31 May 2016, 10:06 a.m.

Gene and phenotype added from the Manchester congenital cataracts gene panel. Not associated with a disease in OMIM or Gene2Phenotype, and not associated with cataracts in Decipher.

Created: 29 Apr 2016, 3:13 p.m.

Created: 29 Apr 2016, 3:13 p.m.

Panel version: 0.10

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Expert list

Phenotypes

Neuronal ceroid lipofucinosis

Clinvar variants

Variants in MFSD6L

Penetrance

Complete

Publications

Aldahmesh (2012) Genet Med 14(12):955-962

Panels with this gene

Bilateral congenital or childhood onset cataracts