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Retinal disorders

Gene: MFSD8

Green List (high evidence)

MFSD8 (major facilitator superfamily domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000164073
EnsemblGeneIds (GRCh37): ENSG00000164073
OMIM: 611124, Gene2Phenotype
MFSD8 is in 14 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. MFSD8 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Created: 3 Apr 2019, 12:47 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MFSD8-Related Neuronal Ceroid-Lipofuscinosis

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, 610951
  • Macular dystrophy with central cone involvement, 616170
  • Eye Disorders
OMIM
611124
Clinvar variants
Variants in MFSD8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Apr 2019, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MFSD8. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mfsd8 has been classified as Green List (High Evidence).

3 Apr 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MFSD8 were set to

9 Mar 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MFSD8 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MFSD8 was created by ellenmcdonagh