RFXANK, 26-BP DEL, NT752 AND Bare lymphocyte syndrome, type II, complementation group B

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2000
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:: RCV000006976.2

Allele description

RFXANK, 26-BP DEL, NT752

Gene:

RFXANK:regulatory factor X associated ankyrin containing protein [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p12

Preferred name:

RFXANK, 26-BP DEL, NT752

HGVS:

Nucleotide change:

26-BP DEL, NT752

Links:

OMIM: 603200.0001

Condition(s)

Name:: Bare lymphocyte syndrome, type II, complementation group B
Identifiers:: MedGen: C1859535

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027172	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2000)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 9806546, 7951244, 10803838

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027172

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2000)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

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

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.

Masternak K, Barras E, Zufferey M, Conrad B, Corthals G, Aebersold R, Sanchez JC, Hochstrasser DF, Mach B, Reith W.

Nat Genet. 1998 Nov;20(3):273-7.

PubMed [citation]

PMID:: 9806546

Two complementation groups account for most cases of inherited MHC class II deficiency.

Lisowska-Grospierre B, Fondaneche MC, Rols MP, Griscelli C, Fischer A.

Hum Mol Genet. 1994 Jun;3(6):953-8.

PubMed [citation]

PMID:: 7951244

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000027172.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In 2 unrelated patients with bare lymphocyte syndrome type II, complementation group B (209920), Masternak et al. (1998) found a 26-bp deletion of genomic DNA that removed the splice acceptor site and the first nucleotide of exon 6 of the RFXANK gene. In 1 of these families, reported by Lisowska-Grospierre et al. (1994), the parents were known to be consanguineous. In both families, homozygosity was confirmed by analysis of DNA from other family members.

Wiszniewski et al. (2000) performed a mutation analysis in 20 additional patients belonging to complementation group B and detected the 26-bp deletion beginning with 752G in 17 patients, all of North African origin. A founder effect was documented, since all tested patients, except 1, displayed a common haplotype spanning the RFXANK locus.

#	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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