Mosaic brain disorders - deep sequencing
Gene: TBC1D7EnsemblGeneIds (GRCh38): ENSG00000145979
EnsemblGeneIds (GRCh37): ENSG00000145979
OMIM: 612655, Gene2Phenotype
TBC1D7 is in 4 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 8:53 a.m. | Last Modified: 11 Oct 2023, 8:53 a.m.
Panel Version: 0.133
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tom Cullup (Great Ormond Street Hospital)
Either rate red or remove pleaseCreated: 31 May 2023, 9:33 a.m. | Last Modified: 31 May 2023, 9:33 a.m.
Panel Version: 0.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MACROCEPHALY/MEGALENCEPHALY SYNDROME
Publications
- PMID: 24515783
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Although brain anomalies are associated with this gene, neither of the two families reported to date affected by this condition had a history of seizures. Furthermore mosaicism was also not reported. Therefore recommending a Red gene rating at this time.Created: 22 Dec 2022, 1:01 p.m. | Last Modified: 22 Dec 2022, 1:01 p.m.
Panel Version: 0.71
Comment on publications: PMID: 23687350 reports 2 sibs, born of consanguineous parents, with ID and megalencephaly had a homozygous 1-bp deletion (538delT) in the TBC1D7 gene, resulting in a frameshift and premature termination (Tyr180ThrfsTer1). A further report (PMID: 24515783) describes two sisters born to Italian parents from distant villages, homozygous for a 4-bp deletion (c.17_20delAGAG) in the TBC1D7 gene, resulting in a frameshift and premature termination (Arg7ThrfsTer21). Both children presented a similar phenotype consisting of mild ID, macrocrania, patellar dislocation as well as celiac disease.Created: 22 Dec 2022, 12:56 p.m. | Last Modified: 22 Dec 2022, 12:56 p.m.
Panel Version: 0.70
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to Red and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:38 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: AR. Publications: Alfaiz et al 2014 Human Mutation. Mechanism: ?LOF (TSC1, TSC2 TBC1D2 complex within MTOR pathway). Penetrance: no information provided.Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2
Phenotypes
MACROCEPHALY/MEGALENCEPHALY SYNDROME
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Expert list
- Phenotypes
-
- Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
- OMIM
- 612655
- Clinvar variants
- Variants in TBC1D7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to TBC1D7.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tbc1d7 has been classified as Red List (Low Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TBC1D7 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: TBC1D7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TBC1D7 were changed from to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TBC1D7 was added gene: TBC1D7 was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: TBC1D7 was set to