MANF:Ensemblv90

mesencephalic astrocyte derived neurotrophic factor
OMIM: 601916, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber MANF in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651

Amber MANF in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651

Amber MANF in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651

Amber MANF in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.152

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651

    Green MANF in Incidentalome_PREGEN_DRAFT


    Version 0.43

    0 reviews Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber MANF in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651

    Amber MANF in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651