NM_022370.3(ROBO3):c.2113T>C (p.Ser705Pro) AND Gaze palsy, familial horizontal, with progressive scoliosis

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 4, 2004
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:: RCV000002259.4

Allele description

NM_022370.3(ROBO3):c.2113T>C (p.Ser705Pro)

Gene:

ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.2

Genomic location:

Preferred name:

NM_022370.3(ROBO3):c.2113T>C (p.Ser705Pro)

HGVS:

NC_000011.10:g.124875150T>C
NG_016214.1:g.14742T>C
NM_022370.3:c.2113T>C
NP_071765.2:p.Ser705Pro
NC_000011.9:g.124745046T>C
Q96MS0:p.Ser705Pro

Protein change:

S705P; SER705PRO

Links:

UniProtKB: Q96MS0#VAR_019075; OMIM: 608630.0004; dbSNP: rs121918272

NCBI 1000 Genomes Browser:

rs121918272

Molecular consequence:

NM_022370.3:c.2113T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Gaze palsy, familial horizontal, with progressive scoliosis (HGPPS)
Identifiers:: MedGen: C1846496; Orphanet: 2744; OMIM: 607313
Age of onset:: Adolescent

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022417	OMIM	no assertion criteria provided	Pathogenic (Jun 4, 2004)	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

SCV000022417

OMIM

no assertion criteria provided

Pathogenic
(Jun 4, 2004)

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

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, et al.

Science. 2004 Jun 4;304(5676):1509-13. Epub 2004 Apr 22.

PubMed [citation]

PMID:: 15105459
PMCID:: PMC1618874

Details of each submission

From OMIM, SCV000022417.3

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

Description

In a consanguineous Saudi family with horizontal gaze palsy with progressive scoliosis (HGPPS; 607313), Jen et al. (2004) identified homozygosity for a 2113T-C transition in exon 14 of the ROBO3 gene. This resulted in a ser705-to-pro (S705P) substitution in the Fn3 II domain of the gene. This mutation was not identified in 116 control samples.

#	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: May 7, 2017

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