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  2. Monogenic Diabetes
  3. MANF
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Monogenic Diabetes

Gene: MANF

Amber List (moderate evidence)
MANF (mesencephalic astrocyte derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000145050
EnsemblGeneIds (GRCh37): ENSG00000145050
OMIM: 601916, Gene2Phenotype
MANF is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype.
Sources: Expert Review
Created: 8 Dec 2023, 3:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651

Publications

Created: 8 Dec 2023, 3:27 a.m.

Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651
OMIM
601916
Clinvar variants
Variants in MANF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: manf has been classified as Amber List (Moderate Evidence).

8 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: manf has been classified as Amber List (Moderate Evidence).

8 Dec 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MANF was added gene: MANF was added to Monogenic Diabetes. Sources: Expert Review Mode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANF were set to 26077850; 33500254; 34815294 Phenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Review for gene: MANF was set to AMBER