U.S. flag

An official website of the United States government

NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) AND Gordon syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001007806.2

Allele description [Variation Report for NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)]

NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)

Gene:
PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
18p11.22
Genomic location:
Preferred name:
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)
HGVS:
  • NC_000018.10:g.10671603TCT[2]
  • NG_034005.1:g.482152AGA[2]
  • NM_001378183.1:c.8514AGA[2]MANE SELECT
  • NM_022068.4:c.8175AGA[2]
  • NP_001365112.1:p.Glu2840del
  • NP_071351.2:p.Glu2727del
  • NC_000018.9:g.10671600TCT[2]
  • NM_001378183.1:c.8520_8522delMANE SELECT
  • NM_022068.2:c.8181_8183del
Protein change:
E2727del
Links:
OMIM: 613629.0002; dbSNP: rs1555621138
NCBI 1000 Genomes Browser:
rs1555621138
Molecular consequence:
  • NM_001378183.1:c.8514AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_022068.4:c.8175AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Gordon syndrome (DA3)
Synonyms:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA; Arthrogryposis distal type 3; Arthrogryposis multiplex congenita distal type 2a; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007252; MedGen: C0220666; Orphanet: 376; OMIM: 114300

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
SCV001167496Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenicde novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providedyesresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV001167496.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: May 12, 2024