1. Genes and Genomic Entities
  2. SART3

SART3

squamous cell carcinoma antigen recognized by T-cells 3
OMIM: 611684, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Amber SART3 in Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • disseminated superficial actinic porokeratosis
  • DSAP
Tags
  • watchlist
Red SART3 in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • GRID V2.0
  • Expert Review Red
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Porokeratosis
Amber SART3 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.53
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • 46 XY differences of sex development, MONDO:0020040
    Tags
    • Q4_26_promote_green
    Red SART3 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 9.112
    Latest signed off version: v9.91 (12 Aug 2026)

    		review Unknown
    Sources
    • Expert Review Red
    • GRID V2.0
    Phenotypes
    • Porokeratosis
    Amber SART3 in Differences in sex development


    Level 2: Endocrinology
    Version 4.41
    Latest signed off version: v4.22 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • 46 XY differences of sex development, MONDO:0020040
    Tags
    • Q4_26_promote_green
    Green SART3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.31
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis
    Tags
    • gene-checked
    Green SART3 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
    Tags
    • gene-checked
    Amber SART3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.93
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • 46 XY differences of sex development, MONDO:0020040
    Tags
    • Q4_26_promote_green