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Intellectual disability syndromic and non-syndromic

Gene: TRIM8

Green List (high evidence)

TRIM8 (tripartite motif containing 8)
EnsemblGeneIds (GRCh38): ENSG00000171206
EnsemblGeneIds (GRCh37): ENSG00000171206
OMIM: 606125, Gene2Phenotype
TRIM8 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Further 10 families reported.
Created: 2 Feb 2021, 4:14 a.m. | Last Modified: 2 Feb 2021, 4:14 a.m.
Panel Version: 0.3428
Six unrelated individuals reported. All variants reported to date are truncating, affecting the last (sixth exon) and as a result may escape nonsense-mediated decay. Since TRIM8 homodimerizes via its (upstream) coiled-coil domain and its C-terminal domain is required for nuclear localization, a dominant-negative effect is postulated by the authors. Haploinsufficiency appears less likely.
Sources: Expert list
Created: 1 Mar 2020, 9:25 a.m. | Last Modified: 1 Mar 2020, 9:26 a.m.
Panel Version: 0.2334

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; FSGS

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428
  • Intellectual disability
  • Seizures
  • FSGS
OMIM
606125
Clinvar variants
Variants in TRIM8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures; FSGS to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; FSGS

2 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRIM8 were changed from Intellectual disability; Seizures to Intellectual disability; Seizures; FSGS

2 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trim8 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trim8 has been classified as Green List (High Evidence).

1 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRIM8 was added gene: TRIM8 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM8 were set to 30244534; 27346735; 23934111 Phenotypes for gene: TRIM8 were set to Intellectual disability; Seizures Review for gene: TRIM8 was set to GREEN gene: TRIM8 was marked as current diagnostic