NM_001029896.2(WDR45):c.437-4_437-2delinsT AND Neurodegeneration with brain iron accumulation 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 4, 2019
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:: RCV000986092.2

Allele description [Variation Report for NM_001029896.2(WDR45):c.437-4_437-2delinsT]

NM_001029896.2(WDR45):c.437-4_437-2delinsT

Gene:

WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_001029896.2(WDR45):c.437-4_437-2delinsT

HGVS:

NC_000023.11:g.49075947_49075949delinsA
NG_033004.2:g.30222_30224delinsT
NM_001029896.2:c.437-4_437-2delinsTMANE SELECT
NM_007075.4:c.440-4_440-2delinsT
NC_000023.10:g.48933606_48933608delinsA

Links:

dbSNP: rs1602538379

NCBI 1000 Genomes Browser:

rs1602538379

Molecular consequence:

NM_001029896.2:c.437-4_437-2delinsT - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_007075.4:c.440-4_440-2delinsT - splice acceptor variant - [Sequence Ontology: SO:0001574]

Observations:

Condition(s)

Name:: Neurodegeneration with brain iron accumulation 5 (NBIA5)
Synonyms:: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD; Beta-propeller protein-associated neurodegeneration
Identifiers:: MONDO: MONDO:0010476; MedGen: C3550973; Orphanet: 329284; OMIM: 300894

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IRF9 [Miniopterus natalensis]
IRF9 [Miniopterus natalensis]
Gene ID:107531724

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000995944	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Pathogenic (Jul 4, 2019)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000995944

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Pathogenic
(Jul 4, 2019)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV000995944.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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