PanelApp (test)
  1. Genes and Genomic Entities
  2. LAMA1:Ensemblv90

LAMA1:Ensemblv90

laminin subunit alpha 1
OMIM: 150320, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red LAMA1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Poretti-Boltshauser syndrome, MIM#615960

Green LAMA1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Poretti-Boltshauser syndrome, MIM# 615960

Green LAMA1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
  • Poretti Boltshauser syndrome MIM#615960

Green LAMA1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green LAMA1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419

Green LAMA1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • Poretti-Boltshauser syndrome
    • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

    Green LAMA1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.235

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM# 615960

    Green LAMA1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Poretti-Boltshauser syndrome, 615960 (3)

    Green LAMA1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.23

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS Genomic Medicine Service
    Phenotypes
    • Poretti-Boltshauser syndrome, OMIM:615960

    Green LAMA1 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM# 615960

    Green LAMA1 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM #615960

    Red LAMA1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM#615960

    Green LAMA1 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM# 615960

    Green LAMA1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green LAMA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419

    Green LAMA1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • GeneReviews
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome
    • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

    Green LAMA1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • RetNet
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM# 615960

    Green LAMA1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome, 615960 (3)

    Green LAMA1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS Genomic Medicine Service
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome, OMIM:615960

    Green LAMA1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Poretti-Boltshauser syndrome, MIM #615960