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Intellectual disability syndromic and non-syndromic

Gene: TAF8

Green List (high evidence)
TAF8 (TATA-box binding protein associated factor 8)
EnsemblGeneIds (GRCh38): ENSG00000137413
EnsemblGeneIds (GRCh37): ENSG00000137413
OMIM: 609514, Gene2Phenotype
TAF8 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Further 7 individuals reported from 4 families, three of which were consanguineous.

Clinical features included severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy.

Five had the previously reported c.781-1G > A variant in homozygous state. Unclear if this is a founder variant, families of different ethnicities.

One family with different compound heterozygous variants.
Created: 14 Jul 2022, 12:15 a.m. | Last Modified: 14 Jul 2022, 12:28 a.m.
Panel Version: 0.4839

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972

Publications

Created: 14 Jul 2022, 12:15 a.m.
Last Modified: 14 Jul 2022, 12:28 a.m.
Panel version: 0.4863

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not OMIM listed yet BUT
1 patient reported with homozygous splice-site mutation in TAF8. The mutant TAF8 protein could not be detected in extracts from the patient's fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative. Moreover, our immunoprecipitation and proteomic analyses show that in patient cells only partial TAF complexes exist and that the formation of the canonical TFIID is impaired.
Created: 10 Dec 2019, 6:10 a.m. | Last Modified: 10 Dec 2019, 6:10 a.m.
Panel Version: 0.1153

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 10 Dec 2019, 6:10 a.m.
Last Modified: 10 Dec 2019, 6:10 a.m.
Panel version: 0.1153

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972
OMIM
609514
Clinvar variants
Variants in TAF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972

14 Jul 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder was removed from gene: TAF8.

14 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: TAF8.

14 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF8 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF8-related to Neurodevelopmental disorder, MONDO:0700092, TAF8-related

14 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TAF8 were changed from to Neurodevelopmental disorder, MONDO:0700092, TAF8-related

14 Jul 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TAF8 were set to PMID: 29648665

14 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf8 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: taf8 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: taf8 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 3

Removed Source, Added New Source, Set mode of inheritance, Set publications

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TAF8. Source Expert list was added to TAF8. Mode of inheritance for gene TAF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Publications for gene TAF8 were changed from PMID: 29648665 to PMID: 29648665

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAF8 was added gene: TAF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF8 was set to Unknown