SLC33A1

solute carrier family 33 member 1
OMIM: 603690, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green SLC33A1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.17
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 42, autosomal dominant, 612539
  • Congenital cataracts, hearing loss, and neurodegeneration, 614482
  • Congenital cataracts hearing loss and neurodegeneration
  • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN

Amber SLC33A1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.217

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 42, autosomal dominant,

Red SLC33A1 in Hereditary spastic paraplegia - childhood onset


Version 2.19
Signed off v.2.18 on 8 Oct 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR
  • Spastic paraplegia 42, autosomal dominant

Red SLC33A1 in Hereditary spastic paraplegia - adult onset


Version 1.13
Signed off v.1.12 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
  • Spastic paraplegia 42, autosomal dominant

Red SLC33A1 in Neurodegenerative disorders - adult onset


Version 2.32
Signed off v.2.31 on 8 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spastic paraplegia 42, autosomal dominant,

Green SLC33A1 in Fetal anomalies


Version 1.108
Signed off v.1.92 on 21 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN

Green SLC33A1 in DDG2P


Version 2.11
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN

    Red SLC33A1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.96
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 42, autosomal dominant, 612539
    • Spasticparaplegia42,autosomaldominant,612539Congenitalcataracts,hearingloss,andneurodegeneration,614482

    Green SLC33A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Congenital cataracts, hearing loss, and neurodegeneration, 614482

    Red SLC33A1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.8
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Congenital cataracts, hearing loss, and neurodegeneration 614482
    • Spastic paraplegia 42, autosomal dominant 612539

    Red SLC33A1 in Structural eye disease


    Version 1.12
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Congenital cataracts, hearing loss, and neurodegeneration, 614482

    Green SLC33A1 in Severe Paediatric Disorders


    Version 1.12

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital cataracts, hearing loss, and neurodegeneration, 614482
    • Spastic paraplegia 42, autosomal dominant, 612539