NC_000013.10:g.99162946_101376965del AND Lobar holoprosencephaly

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 29, 2021
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:: RCV001847319.1

Allele description

NC_000013.10:g.99162946_101376965del

Genes:

GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
UBAC2:UBA domain containing 2 [Gene - HGNC]
ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
CLYBL:citramalyl-CoA lyase [Gene - OMIM - HGNC]
DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q32.2-32.3

Genomic location:

Chr13: 99162946 - 101376965 (on Assembly GRCh37)

Preferred name:

NC_000013.10:g.99162946_101376965del

HGVS:

NC_000013.10:g.99162946_101376965del

Condition(s)

Name:: Lobar holoprosencephaly
Identifiers:: MONDO: MONDO:0019756; MedGen: C0431362; Human Phenotype Ontology: HP:0006870

Recent activity

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unnamed protein product, partial [Tetraodon nigroviridis]
unnamed protein product, partial [Tetraodon nigroviridis]
gi|47224398|emb|CAG08648.1|

Protein
Homo sapiens CDP-L-ribitol pyrophosphorylase A (CRPPA), RefSeqGene on chromosome...
Homo sapiens CDP-L-ribitol pyrophosphorylase A (CRPPA), RefSeqGene on chromosome 7
gi|1543388608|ref|NG_032690.2|

Nucleotide
large proline-rich protein BAG6 isoform X11 [Mus musculus]
large proline-rich protein BAG6 isoform X11 [Mus musculus]
gi|1720389794|ref|XP_030105575.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001905472	Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre	no assertion criteria provided	Pathogenic (Apr 29, 2021)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001905472

Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre

no assertion criteria provided

Pathogenic
(Apr 29, 2021)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre, SCV001905472.1

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

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine

NC_000013.10:g.99162946_101376965del AND Lobar holoprosencephaly

Allele description

NC_000013.10:g.99162946_101376965del

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Developmental Genetics Unit, King Faisal Specialist Hospital & Research Centre, SCV001905472.1