PanelApp
  1. Genes and Genomic Entities
  2. BLTP1

BLTP1

bridge-like lipid transfer protein family member 1
OMIM: 611565, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green BLTP1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM# 617822

    Green BLTP1 in Cataract


    Level 2: Ophthalmological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM# 617822

    Green BLTP1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM# 617822

    Red BLTP1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM#617822

    Green BLTP1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.1

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

    Green BLTP1 in Mendeliome


    Version 2.10

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM# 617822

    Green BLTP1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • lkuraya-Kucinskas syndrome, MIM# 617822

    Green BLTP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Alkuraya-Kucinskas syndrome, MIM# 617822

    Green BLTP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive

    Green BLTP1 in Fetal anomalies


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Alkuraya-Kucinskas syndrome MIM#617822

    Green BLTP1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Alkuraya-Kucinskas syndrome MIM#617822
    Tags
    • new gene name