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Severe microcephaly

Gene: TTC5

Amber List (moderate evidence)

TTC5 (tetratricopeptide repeat domain 5)
EnsemblGeneIds (GRCh38): ENSG00000136319
EnsemblGeneIds (GRCh37): ENSG00000136319
TTC5 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 9 Jul 2020, 11:17 a.m. | Last Modified: 9 Jul 2020, 11:17 a.m.
Panel Version: 2.10
Not associated with a relevant phenotype in OMIM and as probable Gen2Phen gene for TTC5-associated neurodevelopmental disorder. At least 7 cases with biallelic variants.
Sources: Literature
Created: 9 Jul 2020, 11:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Central hypotonia
  • Global developmental delay
  • Intellectual disability
  • Abnormality of nervous system morphology
  • Microcephaly
  • Abnormality of the face
  • Behavioral abnormality
  • Abnormality of the genitourinary system
Tags
for-review
Clinvar variants
Variants in TTC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ttc5 has been classified as Amber List (Moderate Evidence).

9 Jul 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: TTC5 was added gene: TTC5 was added to Severe microcephaly. Sources: Literature for-review tags were added to gene: TTC5. Mode of inheritance for gene: TTC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC5 were set to 29302074; 32439809 Phenotypes for gene: TTC5 were set to Central hypotonia; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Microcephaly; Abnormality of the face; Behavioral abnormality; Abnormality of the genitourinary system Review for gene: TTC5 was set to GREEN