1. Genes and Genomic Entities
  2. SMPD4

SMPD4

sphingomyelin phosphodiesterase 4
OMIM: 610457, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Amber SMPD4 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
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
    Phenotypes
    • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
    Green SMPD4 in Monogenic diabetes


    Level 2: Endocrinology
    Version 3.27
    Latest signed off version: v3.26 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622
    • type 1 diabetes mellitus, MONDO:0005147
    Green SMPD4 in Arthrogryposis


    Level 2: Neurology
    Version 10.23
    Latest signed off version: v10.16 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Research
    Phenotypes
    • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
    Green SMPD4 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Research
    Phenotypes
    • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
    Green SMPD4 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622
    • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838
    Green SMPD4 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Developmental Disorder with Microcephaly and Congenital Arthrogryposis
    Green SMPD4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    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
    • Research
    Phenotypes
    • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
    Red SMPD4 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Not set
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Red SMPD4 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH