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NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) AND Familial aplasia of the vermis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000201670.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)]

NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
HGVS:
  • NC_000017.11:g.58208155_58208157del
  • NG_013032.1:g.16451_16453del
  • NM_001321268.2:c.506_508del
  • NM_001321269.2:c.1115_1117del
  • NM_001330397.2:c.1115_1117del
  • NM_017777.4:c.1115_1117delMANE SELECT
  • NP_001308197.1:p.Ser169del
  • NP_001308198.1:p.Ser372del
  • NP_001317326.1:p.Ser372del
  • NP_060247.2:p.Ser372del
  • LRG_687:g.16451_16453del
  • NC_000017.10:g.56285514_56285516del
  • NC_000017.10:g.56285516_56285518del
  • NM_017777.3:c.1115_1117delCCT
Protein change:
S169del
Links:
OMIM: 609883.0011; dbSNP: rs754279998
NCBI 1000 Genomes Browser:
rs754279998
Molecular consequence:
  • NM_001321268.2:c.506_508del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001321269.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330397.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_017777.4:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256447UW Hindbrain Malformation Research Program, University of Washington

See additional submitters

criteria provided, single submitter

(Bachmann-Gagescu et al. (J Med Genet. 2015))
Pathogenic
(Feb 23, 2015)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]
PMID:
26092869
PMCID:
PMC5082428

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV000256447.1

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

Last Updated: May 19, 2024