NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) AND DOORS syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2014
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:: RCV000192068.9

Allele description [Variation Report for NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)]

NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)

Gene:

TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)

HGVS:

NC_000016.10:g.2496476G>A
NG_028170.1:g.26331G>A
NM_001199107.2:c.328G>AMANE SELECT
NM_020705.3:c.328G>A
NP_001186036.1:p.Gly110Ser
NP_065756.1:p.Gly110Ser
NC_000016.9:g.2546477G>A
NM_001199107.1:c.328G>A
Q9ULP9:p.Gly110Ser

Protein change:

G110S

Links:

UniProtKB: Q9ULP9#VAR_070914; dbSNP: rs747821285

NCBI 1000 Genomes Browser:

rs747821285

Molecular consequence:

NM_001199107.2:c.328G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020705.3:c.328G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: DOORS syndrome (DOORS)
Synonyms:: Deafness onychodystrophy osteodystrophy and mental retardation syndrome; DRC SYNDROME; BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009079; MedGen: C0795934; Orphanet: 3231; Orphanet: 79500; OMIM: 220500

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000211966	Division of Medical Genetics; Sainte-Justine Hospital	no assertion criteria provided	Pathogenic (Dec 22, 2014)	germline	literature only	Citation Link,
SCV000266466	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Campeau et al. (Lancet Neurol 2014))	Pathogenic (Jan 1, 2014)	germline	research	PubMed (5) [See all records that cite these PMIDs] 25169651, 25719194, 23806086, 24088043, 24291220

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000211966

Division of Medical Genetics; Sainte-Justine Hospital

no assertion criteria provided

Pathogenic
(Dec 22, 2014)

germline

literature only

Citation Link,

SCV000266466

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Campeau et al. (Lancet Neurol 2014))

Pathogenic
(Jan 1, 2014)

germline

research

PubMed (5)
[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	yes	1	1	not provided	not provided	not provided	literature only, research
not provided	germline	no	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Campeau PM, Hennekam RC; DOORS syndrome collaborative group..

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28.

PubMed [citation]

PMID:: 25169651

TBC1D24-Related Disorders.

Mucha BE, Hennekam RCM, Sisodiya S, Campeau PM.

2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 25719194

See all PubMed Citations (5)

Details of each submission

From Division of Medical Genetics; Sainte-Justine Hospital, SCV000211966.1

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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000266466.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (5)
2	not provided	1	not provided	not provided	research	PubMed (5)

Description

We identified 26 families with DOORS syndrome; each patient had at least 3 of the 5 well-described features of DOORS syndrome, which include deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures. A combination of whole-exome sequencing and Sanger sequencing identified homozygous or compound heterozygous pathogenic variants in TBC1D24 in 11 individuals from 9 families.

#	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		1	not provided	1	not provided
2	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

ClinVar

Relating variation to medicine