U.S. flag

An official website of the United States government

Multiple alleles AND Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000170541.12

Allele description

NM_006701.5(TXNL4A):c.-222_-189del

Genes:
LOC130062794:ATAC-STARR-seq lymphoblastoid silent region 9585 [Gene]
TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q23
Genomic location:
Preferred name:
NM_006701.5(TXNL4A):c.-222_-189del
HGVS:
  • NC_000018.10:g.79988603_79988636del
  • NG_042061.1:g.50322_50355del
  • NM_001305563.2:c.-60-10913_-60-10880del
  • NM_001305564.2:c.-60-10913_-60-10880del
  • NM_006701.5:c.-222_-189delMANE SELECT
  • NC_000018.10:g.79988581_79988614delCGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG
  • NC_000018.9:g.77748581_77748614del34
  • NC_000018.9:g.77748603_77748636del
  • NM_006701.4:c.-222_-189del34
Links:
OMIM: 611595.0001; dbSNP: rs535089924
NCBI 1000 Genomes Browser:
rs535089924
Molecular consequence:
  • NM_006701.5:c.-222_-189del - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
  • NM_001305563.2:c.-60-10913_-60-10880del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001305564.2:c.-60-10913_-60-10880del - intron variant - [Sequence Ontology: SO:0001627]

NC_000018.9:g.76841645_78077248del1235604

Genes:
  • ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
  • ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
  • CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
  • HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
  • NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
  • PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
  • KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
  • RBFA:ribosome binding factor A [Gene - OMIM - HGNC]
  • SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
  • TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q23
Genomic location:
Chr18: 76841645 - 78077248 (on Assembly GRCh37)
Preferred name:
NC_000018.9:g.76841645_78077248del1235604
HGVS:
NC_000018.9:g.76841645_78077248del1235604

Condition(s)

Name:
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (BMKS)
Synonyms:
Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance; OCULOOTOFACIAL DYSPLASIA; Burn-McKeown syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012064; MedGen: C1837822; Orphanet: 1200; OMIM: 608572

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000223136Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Dec 2, 2014) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot provided4not providedresearch

Citations

PubMed

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, et al.

Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26.

PubMed [citation]
PMID:
25434003
PMCID:
PMC4259969

Details of each submission

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000223136.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided
2germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Jun 17, 2024