SMG8

SMG8, nonsense mediated mRNA decay factor
OMIM: 613175, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber SMG8 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 8.1
Latest signed off version: v8.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Short stature
  • Facial dysmorphism
  • Cataract
Green SMG8 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Short stature
  • Facial dysmorphism
Green SMG8 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 7.8
Latest signed off version: v7.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alzahrani-Kuwahara syndrome, OMIM:619268
Green SMG8 in DDG2P


Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SMG8-related Developmental Disorder
    Green SMG8 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual disability
    • Microcephaly
    • Short stature
    • Facial dysmorphism
    Green SMG8 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.5
    Latest signed off version: v5.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Alzahrani-Kuwahara syndrome, OMIM:619268