Severe microcephaly
Gene: TTC5
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282
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: LiteratureCreated: 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
Tag gene-checked tag was added to gene: TTC5.
Tag for-review was removed from gene: TTC5.
Source Expert Review Green was added to TTC5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ttc5 has been classified as Amber List (Moderate Evidence).
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