FAM149B1

family with sequence similarity 149 member B1
OMIM: 618413, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green FAM149B1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.18

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert
  • Ciliopathy

Green FAM149B1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.2

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert
  • Ciliopathy

Green FAM149B1 in Mendeliome


Version 2.588

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 36 MONDO:0032902
  • Ciliopathy

Green FAM149B1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.145

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert
  • Ciliopathy

Green FAM149B1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.157

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 36, MONDO:0032902

    Green FAM149B1 in Fetal anomalies


    Version 2.81

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 36 - MIM#618763