Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: TBC1D7

Amber List (moderate evidence)

TBC1D7 (TBC1 domain family member 7)
EnsemblGeneIds (GRCh38): ENSG00000145979
EnsemblGeneIds (GRCh37): ENSG00000145979
OMIM: 612655, Gene2Phenotype
TBC1D7 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:36669495 reported an additional case with compound heterozygous variants (identified via trio RNA-Seq) and presenting with a neurodevelopmental disorder involving mild intellectual disability. Retain Amber rating on this panel.
Created: 2 Aug 2024, 7:04 a.m. | Last Modified: 2 Aug 2024, 7:04 a.m.
Panel Version: 1.258

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000

Publications

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

PMID: 24515783 report 2 siblings with biallelic variants. One noted to be macrosomic at birth and parents reported macrocephaly.

PMID: 23687350 report 2 affected siblings. One was noted to be macrocephalic at birth.
Sources: Literature
Created: 28 Feb 2022, 11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000
OMIM
612655
Clinvar variants
Variants in TBC1D7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).

2 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBC1D7 were set to 23687350; 24515783

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d7 has been classified as Green List (High Evidence).

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).

1 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).

28 Feb 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

gene: TBC1D7 was added gene: TBC1D7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D7 were set to 23687350; 24515783 Phenotypes for gene: TBC1D7 were set to Macrocephaly/megalencephaly syndrome, autosomal recessive - MIM#248000 Review for gene: TBC1D7 was set to AMBER