Intellectual disability
Gene: TCEAL1

TCEAL1 (transcription elongation factor A like 1)
EnsemblGeneIds (GRCh38): ENSG00000172465
EnsemblGeneIds (GRCh37): ENSG00000172465
OMIM: 300237, Gene2Phenotype
TCEAL1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.

Panel Version: 5.286

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Created: 31 May 2023, 3:24 p.m. | Last Modified: 31 May 2023, 3:24 p.m.

Panel Version: 5.165

Comment on list classification: There is sufficient evidence (7 unrelated cases) for this gene to be rated GREEN at the next GMS review.
Created: 31 May 2023, 3:23 p.m. | Last Modified: 31 May 2023, 3:23 p.m.

Panel Version: 5.165

PMID:36368327 reported seven unrelated individuals with de novo variants (2 nonsense, 2 frameshift, 2 CNVs & 1 missense variants) in TCEAL1 gene and presenting with an X-linked dominant neurodevelopmental disorder. All these seven individuals had intellectual disability (mild to severe). The other major clinical presentations include hypotonia, abnormal gait, speech impairment, autistic-like behaviour, and mildly dysmorphic facial features.

This gene is associated with relevant phenotypes in OMIM (MIM #301094), but not in Gene2Phenotype.
Sources: Literature
Created: 31 May 2023, 3:20 p.m. | Last Modified: 31 May 2023, 3:21 p.m.

Panel Version: 5.163

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094

Publications

36368327

Created: 31 May 2023, 3:20 p.m.
Last Modified: 31 May 2023, 3:21 p.m.
Panel version: 5.163

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
NHS GMS
Literature

Phenotypes

Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094

OMIM

300237

Clinvar variants

Variants in TCEAL1

Penetrance

None

Publications

36368327

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: TCEAL1.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to TCEAL1. Source Expert Review Green was added to TCEAL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2