Microcephaly
Gene: TTI2
TTI2 (TELO2 interacting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000129696
EnsemblGeneIds (GRCh37): ENSG00000129696
OMIM: 614426, Gene2Phenotype
TTI2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000129696
EnsemblGeneIds (GRCh37): ENSG00000129696
OMIM: 614426, Gene2Phenotype
TTI2 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID: 32061250 reviews reports of TTI2-related ID in 6 families. Common features are microcephaly and DD, but there is phenotypic variability reported with syndromic and non-syndromic individuals. Other features include speech delay, short stature, dysmorphic features (high nasal bridge, deep-set eyes), strabismus and dyskenesia. Six missense and one NMD were reported in hom and cHet individuals. Functional evidence is limited, but suggestive of LoF (PMIDs: 23956177, 31737043).
Sources: Expert ReviewCreated: 18 Jan 2022, 8:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 39 (MIM#615541)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Mental retardation, autosomal recessive 39 (MIM#615541)
- OMIM
- 614426
- Clinvar variants
- Variants in TTI2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Jan 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tti2 has been classified as Green List (High Evidence).
18 Jan 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tti2 has been classified as Green List (High Evidence).
18 Jan 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TTI2 was added gene: TTI2 was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTI2 were set to 32061250; 23956177; 31737043 Phenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39 (MIM#615541) Review for gene: TTI2 was set to GREEN