NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) AND Hypomyelinating leukodystrophy 7

Clinical significance:Pathogenic (Last evaluated: May 11, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000034149.3

Allele description [Variation Report for NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)]

NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)

Gene:
POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)
HGVS:
  • NC_000010.11:g.77980159G>A
  • NG_029648.1:g.54382C>T
  • NM_007055.4:c.4006C>TMANE SELECT
  • NP_008986.2:p.Gln1336Ter
  • NC_000010.10:g.79739917G>A
  • NM_007055.3:c.4006C>T
Protein change:
Q1336*
Links:
dbSNP: rs267608675
NCBI 1000 Genomes Browser:
rs267608675
Molecular consequence:
  • NM_007055.4:c.4006C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hypomyelinating leukodystrophy 7 (HLD7)
Synonyms:
LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Dentoleukoencephalopathy; Dentoleukoencephalopathy, autosomal recessive; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011897; MedGen: C2676243; Orphanet: 137639; Orphanet: 447893; Orphanet: 447896; Orphanet: 77295; Orphanet: 88637; OMIM: 607694

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058084GeneReviewsno assertion criteria providedPathogenic
(May 11, 2017)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B.

Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Erratum in: Am J Hum Genet. 2012 Nov 2;91(5):972.

PubMed [citation]
PMID:
21855841
PMCID:
PMC3169829

POLR3-Related Leukodystrophy.

Bernard G, Vanderver A.

2012 Aug 2 [updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
22855961

Details of each submission

From GeneReviews, SCV000058084.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

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