Cataracts

Gene: MFSD6L

Red List (low evidence)

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

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.

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

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MFSD6L were set to Aldahmesh (2012) Genet Med 14(12):955-962

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MFSD6L was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MFSD6L was created by ellenmcdonagh