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  3. MFSD8
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Regression

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 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive condition with mean age of onset ~5yo.
Created: 13 Apr 2021, 11:09 a.m. | Last Modified: 13 Apr 2021, 11:09 a.m.
Panel Version: 0.290

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588

Publications

Created: 13 Apr 2021, 11:09 a.m.
Last Modified: 13 Apr 2021, 11:09 a.m.
Panel version: 0.290

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
  • MONDO:0012588
OMIM
611124
Clinvar variants
Variants in MFSD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MFSD8 were changed from to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951; MONDO:0012588

13 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MFSD8 were set to

13 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MFSD8 was added gene: MFSD8 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MFSD8 was set to Unknown