LAMA1

laminin subunit alpha 1
OMIM: 150320, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber LAMA1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.243
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Poretti-Boltshauser syndrome OMIM:615960
    • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
    Tags
    • Q2_21_rating

    Amber LAMA1 in Albinism or congenital nystagmus


    Version 1.19
    Latest signed off version: v1.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Poretti-Boltshauser syndrome, OMIM:615960
    Tags
    • for-review

    Red LAMA1 in Autism


    Version 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green LAMA1 in Fetal anomalies


    Version 1.749
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION

    Green LAMA1 in DDG2P


    Version 2.50
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION

    Green LAMA1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome OMIM:615960
    • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419

    Amber LAMA1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.228
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Poretti-Boltshauser syndrome, OMIM:615960
    Tags
    • for-review

    Green LAMA1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.149

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Poretti-Boltshauser syndrome OMIM:615960
    • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419

    Amber LAMA1 in Ophthalmological ciliopathies


    Version 1.25
    Latest signed off version: v1.3 (19 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Poretti-Boltshauser syndrome OMIM:615960
    • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
    Tags
    • Q3_21_rating
    • Q3_21_expert_review

    Amber LAMA1 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.21
    Latest signed off version: v1.5 (4 Mar 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Poretti-Boltshauser syndrome OMIM:615960
    • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419
    Tags
    • Q3_21_rating
    • Q3_21_expert_review

    Green LAMA1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Poretti-Boltshauser syndrome, 615960