TTC5

tetratricopeptide repeat domain 5
Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green TTC5 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.68 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 gene-checked
Green TTC5 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TTC5-associated neurodevelopmental disorder Tags gene-checked
Green TTC5 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 gene-checked