U.S. flag

An official website of the United States government

NC_000010.10:g.(?_76349020)_(78317046_?)del AND Genitopatellar syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 26, 2022
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:
RCV003116587.2

Allele description

NC_000010.10:g.(?_76349020)_(78317046_?)del

Genes:
  • ADK:adenosine kinase [Gene - OMIM - HGNC]
  • COMTD1:catechol-O-methyltransferase domain containing 1 [Gene - HGNC]
  • DUSP13B:dual specificity phosphatase 13B [Gene - OMIM - HGNC]
  • DUSP29:dual specificity phosphatase 29 [Gene - OMIM - HGNC]
  • LRMDA:leucine rich melanocyte differentiation associated [Gene - OMIM - HGNC]
  • KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
  • SAMD8:sterile alpha motif domain containing 8 [Gene - OMIM - HGNC]
  • VDAC2:voltage dependent anion channel 2 [Gene - OMIM - HGNC]
  • ZNF503:zinc finger protein 503 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q22.2-22.3
Genomic location:
Chr10: 76349020 - 78317046 (on Assembly GRCh37)
Preferred name:
NC_000010.10:g.(?_76349020)_(78317046_?)del
HGVS:
NC_000010.10:g.(?_76349020)_(78317046_?)del

Condition(s)

Name:
Genitopatellar syndrome (GTPTS)
Synonyms:
ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
Identifiers:
MONDO: MONDO:0011640; MedGen: C1853566; Orphanet: 85201; OMIM: 606170

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
SCV003792796Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 26, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, et al.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.

PubMed [citation]
PMID:
22077973
PMCID:
PMC3213399

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G.

Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22.

PubMed [citation]
PMID:
23436491
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV003792796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the KAT6B gene has been identified. Loss-of-function variants in KAT6B are known to be pathogenic (PMID: 22077973, 23436491, 25424711). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of KAT6B have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 25424711, 27880066). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 26, 2023