Joubert syndrome and other neurological ciliopathies
Gene: FAM149B1EnsemblGeneIds (GRCh38): ENSG00000138286
EnsemblGeneIds (GRCh37): ENSG00000138286
FAM149B1 is in 5 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
Four unrelated families reported
Sources: LiteratureCreated: 17 Jan 2020, 1:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert; Ciliopathy
Publications
- PMID: 30905400
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Joubert
- Ciliopathy
- Clinvar variants
- Variants in FAM149B1
- Penetrance
- None
- Publications
-
- PMID: 30905400
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: fam149b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: fam149b1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: FAM149B1 was added gene: FAM149B1 was added to Joubert syndrome and other cerebellar malformations. Sources: Literature Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to PMID: 30905400 Phenotypes for gene: FAM149B1 were set to Joubert; Ciliopathy Review for gene: FAM149B1 was set to GREEN gene: FAM149B1 was marked as current diagnostic