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Intellectual disability

Gene: TASP1

Amber List (moderate evidence)

TASP1 (taspase 1)
EnsemblGeneIds (GRCh38): ENSG00000089123
EnsemblGeneIds (GRCh37): ENSG00000089123
OMIM: 608270, Gene2Phenotype
TASP1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Sufficient cases for a GREEN rating at the next major review.

Associated with phenotype in OMIM, and a possible gene for Developmental delay, happy demeanor, distinctive facial features, and congenital anomalies in G2P.

Four unrelated patients with homozygous LOF variants in this gene all exhibited a consistent phenotype which included global developmental delay. All variants segregated with disease, but no functional studies of the variants or patient cells were not performed.
Created: 20 Aug 2020, 1:31 p.m. | Last Modified: 20 Aug 2020, 1:31 p.m.
Panel Version: 3.262

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated families reported; two with founder mutation. Protein interacts with KMT2A and KMT2D. Another de novo missense variant reported in a single infant with multiple congenital abnormalities, insufficient evidence for mono allelic disease at present.
Sources: Expert list
Created: 29 Feb 2020, 9:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; microcephaly; dysmorphic features; congenital abnormalities

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental delay
  • microcephaly
  • dysmorphic features
  • congenital abnormalities
Tags
for-review
OMIM
608270
Clinvar variants
Variants in TASP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TASP1.

20 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tasp1 has been classified as Amber List (Moderate Evidence).

29 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TASP1 was added gene: TASP1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TASP1 were set to 31209944; 31350873 Phenotypes for gene: TASP1 were set to Developmental delay; microcephaly; dysmorphic features; congenital abnormalities Review for gene: TASP1 was set to GREEN gene: TASP1 was marked as current diagnostic