1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. POLD1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

BRIDGE_SPEED_NEURO_20170705

Gene: POLD1

Green List (high evidence)
POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 16 panels

2 reviews

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 . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 10:35 a.m.

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

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 6:11 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:56 p.m.
Created: 31 Jul 2017, 1:56 p.m.

Panel version: 0.124

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for POLD1 were set to {Colorectal cancer, susceptibility to, 10}, 612591; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

POLD1 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)

POLD1 was created by LouiseD