NM_000292.3(PHKA2):c.750_752del (p.Thr251del) AND Glycogen storage disease IXa2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1996
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:: RCV000011285.5

Allele description [Variation Report for NM_000292.3(PHKA2):c.750_752del (p.Thr251del)]

NM_000292.3(PHKA2):c.750_752del (p.Thr251del)

Gene:

PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_000292.3(PHKA2):c.750_752del (p.Thr251del)

HGVS:

NC_000023.11:g.18941642_18941644del
NG_016622.1:g.47720_47722del
NM_000292.3:c.750_752delMANE SELECT
NP_000283.1:p.Thr251del
NC_000023.10:g.18959760_18959762del
NM_000292.2:c.750_752del

Protein change:

T251del

Links:

OMIM: 300798.0013; dbSNP: rs587776733

NCBI 1000 Genomes Browser:

rs587776733

Molecular consequence:

NM_000292.3:c.750_752del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Glycogen storage disease IXa2 (GSD9A2)
Synonyms:: GSD IXa2
Identifiers:: MONDO: MONDO:0100439; MedGen: C2748941

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031513	OMIM	no assertion criteria provided	Pathogenic (May 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031513

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1996)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.

Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems PJ.

Hum Mol Genet. 1996 May;5(5):649-52.

PubMed [citation]

PMID:: 8733133

Details of each submission

From OMIM, SCV000031513.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with X-linked GSD IXa2 (see GSD9A2; see 306000), Hendrickx et al. (1996) identified an in-frame 3-bp deletion (750_752) in the PHKA2 gene, resulting in the deletion of thr251.

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

Last Updated: Apr 23, 2022

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