PanelApp
  1. Genes and Genomic Entities
  2. AHI1

AHI1

Abelson helper integration site 1
OMIM: 608894, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Amber AHI1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.207

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.250

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

    Green AHI1 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.99

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 in Mendeliome


    Version 1.4851

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM#608629

    Green AHI1 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.303

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.53

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM#608629

    Green AHI1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.593

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

    Green AHI1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.611

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

    Green AHI1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.780

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Joubert Syndrome 3 OMIM #608629

    Red AHI1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.444

    		2 reviews Not set
    Sources
    • Expert Review Green
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services

    Green AHI1 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.203

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3

    Green AHI1 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.246

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • nonsyndromic retinitis pigmentosa
    • Joubert syndrome 17

    Green AHI1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.259

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • RetNet
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 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
    • Joubert syndrome-3, 608629 (3)

    Green AHI1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.280

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Joubert syndrome-3

    Green AHI1 in Fetal anomalies


    Version 1.576

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 in Prepair 1000+


    Level 2: Screening
    Version 2.17

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 3 MIM#608629
    • Retinitis pigmentosa

    Red AHI1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.148

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Joubert syndrome 3, MIM# 608629

    Green AHI1 in Prepair 500+


    Level 2: Screening
    Version 2.1

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 3 MIM#608629