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Prepair 1000+

Gene: TUBGCP6

Green List (high evidence)

TUBGCP6 (tubulin gamma complex associated protein 6)
EnsemblGeneIds (GRCh38): ENSG00000128159
EnsemblGeneIds (GRCh37): ENSG00000128159
OMIM: 610053, Gene2Phenotype
TUBGCP6 is in 9 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Developmental disorder characterized by delayed psychomotor development, variable intellectual disability, and visual impairment/retinopathy, often accompanied by short stature. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life.
Reported in at least 9 unrelated families.
A large heterozygous exon 16 deletion of ~405 bp has been described PMID: 39634241
Created: 22 Jan 2025, 5:16 a.m. | Last Modified: 22 Jan 2025, 5:16 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270
OMIM
610053
Clinvar variants
Variants in TUBGCP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tubgcp6 has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TUBGCP6 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TUBGCP6 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBGCP6 was added gene: TUBGCP6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)