Microcephaly
Gene: TTC5EnsemblGeneIds (GRCh38): ENSG00000136319
EnsemblGeneIds (GRCh37): ENSG00000136319
TTC5 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244
Paul De Fazio (Victorian Clinical Genetics Services)
PMID 29302074: 3 affected individuals from 2 consaguinous families described. All had head circumference < -3SD
PMID 32439809: Report another 8 affected individuals from 5 families but only 3 individuals from 2 families were microcephalic (OFCs 31cm (unsure age), 32cm (12yo), 31cm (5yo)).
Sources: LiteratureCreated: 2 Sep 2020, 8:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability; microcephaly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244
- Intellectual disability
- microcephaly
- Clinvar variants
- Variants in TTC5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TTC5 were changed from Intellectual disability; microcephaly to Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244; Intellectual disability; microcephaly
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ttc5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: TTC5 was added gene: TTC5 was added to Microcephaly. Sources: Literature 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 Intellectual disability; microcephaly Review for gene: TTC5 was set to GREEN gene: TTC5 was marked as current diagnostic