NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) AND Joubert syndrome 14

Clinical significance:Pathogenic (Last evaluated: Feb 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000024182.4

Allele description [Variation Report for NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)]

NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)

Gene:
TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter)
HGVS:
  • NC_000002.12:g.201640264G>A
  • NG_032049.1:g.8266C>T
  • NM_001044385.3:c.76C>TMANE SELECT
  • NM_152388.4:c.52C>T
  • NP_001037850.1:p.Gln26Ter
  • NP_689601.2:p.Gln18Ter
  • NC_000002.11:g.202504987G>A
  • NM_001044385.2:c.76C>T
Protein change:
Q18*; GLN26TER
Links:
OMIM: 614423.0004; dbSNP: rs387907131
NCBI 1000 Genomes Browser:
rs387907131
Molecular consequence:
  • NM_001044385.3:c.76C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152388.4:c.52C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Joubert syndrome 14 (JBTS14)
Identifiers:
MONDO: MONDO:0013745; MedGen: C3280766; OMIM: 614424

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000045473OMIMno assertion criteria providedPathogenic
(Dec 9, 2011)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000256487UW Hindbrain Malformation Research Program,University of Washington

See additional submitters

criteria provided, single submitter
Pathogenic
(Feb 23, 2015)
unknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, et al.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

PubMed [citation]
PMID:
22152675

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]
PMID:
26092869
PMCID:
PMC5082428

Details of each submission

From OMIM, SCV000045473.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a child of European and Spanish descent with Joubert syndrome-14 (JBTS14; 614424), Huang et al. (2011) identified compound heterozygosity for 2 mutations in the TMEM237 gene: a maternally inherited 76C-T transition, resulting in a gln26-to-ter (Q26X) substitution, and a paternally inherited G-to-T transversion in intron 11 (943+1G-T; 614423.0005), resulting in an in-frame deletion of 56 amino acids (exons 11 and 12). The mutations were not found in over 105 controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From UW Hindbrain Malformation Research Program,University of Washington, SCV000256487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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