Skeletal ciliopathies

Gene: FAM149B1

Amber List (moderate evidence)

FAM149B1 (family with sequence similarity 149 member B1)
EnsemblGeneIds (GRCh38): ENSG00000138286
EnsemblGeneIds (GRCh37): ENSG00000138286
FAM149B1 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The OMIM entry for this gene is OMIM:618413, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Created: 17 Oct 2023, 9:48 a.m. | Last Modified: 17 Oct 2023, 9:48 a.m.
Panel Version: 3.11

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: 3 founder variant cases reported plus one other. Some functional data. Changing rating from red to amber based on the 2 independent cases reported. However, the skeletal phenotypes are polydactyly/clinodactyly only.
Created: 1 Oct 2019, 3:09 p.m. | Last Modified: 1 Oct 2019, 3:23 p.m.
Panel Version: 0.15
PMID: 30905400 - Shaheen et al 2019 - report 4 cases in which homozygous variants in the FAM149B1 gene are found in patients with a ciliopathy phenotype that most closely matches Joubert syndrome or Joubert syndrome/oral-facial-digital syndrome (OFD VI) . 3 of the cases in Consanguinity families of Arab origin have the same c.356_357del (p.Lys119Ilefs∗18) variant and haplotype analysis suggests a founder mutation. The fourth case in a Turkish family with Joubert syndrome was found to have a different homozygous truncating variant in the same gene (c.439C>T [p.Gln147∗])). Both variants are predicted to result in truncated proteins.
Functional studies - FAM149B1 encodes a protein of unknown function and mutant fibroblasts were found to have normal ciliogenesis potential. But some cilia-related abnormalities were observed in these cells: abnormal accumulation IFT complex at the distal tips of the cilia, which assumed bulbous appearance, increased length of the primary cilium, and dysregulated SHH signaling.
Sources: Literature
Created: 1 Oct 2019, 3:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome; oral-facial-digital syndrome; OFD VI



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • Literature
  • Joubert syndrome
  • oral-facial-digital syndrome
  • OFD VI
Clinvar variants
Variants in FAM149B1
Panels with this gene

History Filter Activity

17 Oct 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: FAM149B1.

1 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: fam149b1 has been classified as Amber List (Moderate Evidence).

1 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: FAM149B1 was added gene: FAM149B1 was added to Skeletal ciliopathies. Sources: Literature Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM149B1 were set to 30905400 Phenotypes for gene: FAM149B1 were set to Joubert syndrome; oral-facial-digital syndrome; OFD VI Review for gene: FAM149B1 was set to AMBER