1. Genes and Genomic Entities
  2. FAM149B1

FAM149B1

family with sequence similarity 149 member B1
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green FAM149B1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 36, OMIM:618763
Tags
  • gene-checked
Green FAM149B1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Ciliopathy-related syndromic intellectual disability
    Tags
    • gene-checked
    Amber FAM149B1 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Joubert syndrome
    • oral-facial-digital syndrome
    • OFD VI
    Tags
    • gene-checked
    Green FAM149B1 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.15
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 36, OMIM:618763
    Tags
    • gene-checked
    Green FAM149B1 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.15
    Latest signed off version: v6.0 (30 Apr 2025)

    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
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 36, OMIM:618763
    Tags
    • gene-checked
    Green FAM149B1 in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Joubert syndrome 36, OMIM:618763
    Tags
    • gene-checked