• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMEM67 (HGNC:28396) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane protein 67
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MKS3
Alias symbols
MGC26979, JBTS6, NPHP11
%HI
39.26(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.94(Read more about gnomAD LOEUF score)
Cytoband
8q22.1
Genomic Coordinates
GRCh37/hg19: chr8:94767072-94831466 NCBI Ensembl UCSC
GRCh38/hg38: chr8:93754844-93832653 NCBI Ensembl UCSC
MANE Select Transcript
NM_153704.6 ENST00000453321.8 (Read more about MANE Select)
Function
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Is a key regulator of stereociliary bundle orientation (By similarity). Required for epithelial cell branch... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14057
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Joubert Syndrome and related disorders Monarch
HI Evidence Comments:
Variants in TMEM67 have been associated with Nephronophthisis, Meckel Syndrome, Joubert syndrome, and COACH syndrome. These diseases have significant phenotypic overlap, so the term Joubert syndrome and related disorders has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)