PanelApp
  1. Genes and Genomic Entities
  2. CISD2

CISD2

CDGSH iron sulfur domain 2
OMIM: 611507, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CISD2 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wolfram syndrome 2 MIM#604928

Green CISD2 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wolfram syndrome 2, MIM#604928

    Green CISD2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Wolfram syndrome 2 MIM#604928

    Green CISD2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CISD2 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Wolfram syndrome 2, MIM# 604928

    Red CISD2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Wolfram syndrome 2, MIM#604928

    Green CISD2 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 Green
    • NHS GMS
    Phenotypes
    • Wolfram syndrome, MIM#2604928

    Green CISD2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wolfram syndrome 2, 604928 (3)

    Red CISD2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Wolfram syndrome

    Green CISD2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Wolfram syndrome 2 MIM#604928
    • MONDO:0011502

    Red CISD2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Wolfram syndrome