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Intellectual disability

Gene: POLD1

Amber List (moderate evidence)

POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 18 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with biallelic variants in this gene and ID. Note heterozygous variants cause a different condition: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381
Created: 13 Feb 2020, 6:20 a.m. | Last Modified: 13 Feb 2020, 6:20 a.m.
Panel Version: 3.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Intellectual disability, immunodeficiency; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381

Publications

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: 27 Jul 2017, 8:05 p.m.

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

Publications

Mode of pathogenicity
Other

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:17 p.m.

Details

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

POLD1 was created by BRIDGE

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

POLD1 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene