Hydrocephalus
Gene: TBC1D7Comment on list classification: Demoted from Amber to Red. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. Currently, there is no evidence to support this gene-disease association.Created: 21 Jun 2021, 1:37 p.m. | Last Modified: 21 Jun 2021, 1:37 p.m.
Panel Version: 2.112
Specifically megalencephaly but no hydrocephalus.Created: 8 Aug 2020, 2:46 a.m. | Last Modified: 8 Aug 2020, 2:46 a.m.
Panel Version: 2.5
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Gene: tbc1d7 has been classified as Red List (Low Evidence).
Tag watchlist was removed from gene: TBC1D7.
Phenotypes for gene: TBC1D7 were changed from Macrocephaly/megalencephaly syndrome, autosomal recessive to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Source NHS GMS was added to TBC1D7.
31.05.2017 - panel revised after internal curation and clinical review.
TBC1D7 was added to Hydrocephaluspanel. Source: Expert Review Amber
TBC1D7 was created by helen.brittain
TBC1D7 was added to Hydrocephaluspanel. Sources: Literature