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  2. BRIDGE_SPEED_NEURO_20170705
  3. APOPT1
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BRIDGE_SPEED_NEURO_20170705

Gene: APOPT1

Green List (high evidence)
APOPT1 (apoptogenic 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000256053
EnsemblGeneIds (GRCh37): ENSG00000256053
OMIM: 616003, Gene2Phenotype
APOPT1 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for APOPT1 is COA8
Created: 7 May 2019, 1:41 p.m.
Created: 7 May 2019, 1:41 p.m.

Panel version: 0.200

BRIDGE consortium (NIHRBR-RD)

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_manual . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 8:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • 25529582
  • Manual assessment of Genes of interest from literature searches and personal communication

Created: 2 Aug 2017, 1:15 p.m.

Panel version: 0.191

History Filter Activity

7 May 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: APOPT1.

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

APOPT1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

APOPT1 was created by LouiseD