TMEM67 |
- 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)