1. Genes and Genomic Entities
  2. PSMC3

PSMC3

proteasome 26S subunit, ATPase 3
OMIM: 186852, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber PSMC3 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Deafness
  • cataract
Amber PSMC3 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • microcephaly, MONDO:0001149
Green PSMC3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • scoliosis, MONDO:0005392
    • Acetabular dysplasia, HP:0008807
    • brachymetatarsy
    Amber PSMC3 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354
    • neurodevelopmental disorder, MONDO:0700092
    • autosomal dominant nonsyndromic hearing loss, MONDO:0019587
    Tags
    • Q4_23_promote_green
    Green PSMC3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.12
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354
    • neurodevelopmental disorder, MONDO:0700092
    Amber PSMC3 in Hereditary neuropathy or pain disorder


    Version 4.10
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354