GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000626544.1

Allele description [Variation Report for GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)]

GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)

Genes:
Variant type:
copy number loss
Cytogenetic location:
8p23.3-23.1
Genomic location:
Chr8: 194617 - 6816918 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
HGVS:
NC_000008.10:g.(?_194617)_(6816918_?)del

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717
Name:
Micrognathia
Synonyms:
Hypoplastic mandible; Hypoplastic mandible condyle; Mandibular hypoplasia; See all synonyms [MedGen]
Identifiers:
MedGen: C0025990; Human Phenotype Ontology: HP:0000347
Name:
Low-set ears
Synonyms:
Lowset ears; Melotia
Identifiers:
MedGen: C0239234; Human Phenotype Ontology: HP:0000369
Name:
Delayed speech and language development
Synonyms:
Deficiency of speech development; Delayed language development; Delayed speech acquisition; See all synonyms [MedGen]
Identifiers:
MedGen: C0454644; Human Phenotype Ontology: HP:0000750
Name:
Narrow forehead
Synonyms:
Bitemporal narrowing; Bitemporal narrowness; Bitemporal skull narrowing; See all synonyms [MedGen]
Identifiers:
MedGen: C1839758; Human Phenotype Ontology: HP:0000341
Name:
Wide nasal bridge
Synonyms:
Broad nasal root; Broadened nasal bridge; Nasal bridge broad; See all synonyms [MedGen]
Identifiers:
MedGen: C1849367; Human Phenotype Ontology: HP:0000431
Name:
Intellectual disability, mild
Synonyms:
Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation
Identifiers:
MedGen: C0026106; Human Phenotype Ontology: HP:0001256
Name:
Delayed fine motor development
Identifiers:
MedGen: C4023681; Human Phenotype Ontology: HP:0010862

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000747245Centre for Mendelian Genomics,University Medical Centre Ljubljanacriteria provided, single submitter
Pathogenic
(Jan 1, 2017)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV000747245.1

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

Last Updated: Sep 24, 2021

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