TBC1D7

TBC1 domain family member 7
OMIM: 612655, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red TBC1D7 in Hydrocephalus Version 4.6 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Red TBC1D7 in Segmental overgrowth disorders - Deep sequencing Version 3.17 Latest signed off version: v3.3 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Amber TBC1D7 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 Tags watchlist
Red TBC1D7 in Neurological segmental overgrowth Version 2.13 Latest signed off version: v2.12 (1 May 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000