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 - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    Amber SMPD4 in Monogenic diabetes


    Version 2.58
    Latest signed off version: v2.2 (25 Feb 2020)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622
    • type 1 diabetes mellitus, MONDO:0005147
    Tags
    • Q1_24_promote_green
    Green SMPD4 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    		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 1.73

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Research
    Phenotypes
    • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
    Red SMPD4 in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

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