BRIDGE_SPEED_NEURO_20170705

Gene: ACTB

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : All missense/in frame

Created: 28 Jul 2017, 8:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 25529582
• 24896178
• Version 12 ukgtn.nhs.uk

Mode of pathogenicity
Other

Comment on phenotypes: removed NA phenotype, to be reviewed if gene to be green on a panel that will be used in pipeline

Created: 31 Jul 2017, 9:18 a.m.

Comment on phenotypes: removed NA phenotype- needs revision if included as a green gene

Created: 31 Jul 2017, 8:34 a.m.