SPOUT1

SPOUT domain containing methyltransferase 1
OMIM: 617614, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SPOUT1 in Severe microcephaly


Level 2: Neurology
Version 9.18
Latest signed off version: v9.13 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Green SPOUT1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Green SPOUT1 in Early onset or syndromic epilepsy


Level 2: Neurology
Version 9.68
Latest signed off version: v9.56 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
    Green SPOUT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    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 Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
    Green SPOUT1 in Monogenic short stature


    Level 2: Endocrinology
    Version 2.9
    Latest signed off version: v2.8 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154