Severe microcephaly

Gene: PALB2

Amber List (moderate evidence)

PALB2 (partner and localizer of BRCA2)
EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 25 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Amber
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Helen Brittain (Genomics England Curator)

I don't know

Comment on list classification: As per structural neurological working group webex on 11th July 2019
Created: 19 Jul 2019, 1:44 p.m. | Last Modified: 19 Jul 2019, 1:44 p.m.
Panel Version: 1.50
This gene was reviewed as part of the structural neurological disorders working group webex on 11th July. Although microcephaly is recognised as a feature of Fanconi anaemia, the evidence for microcephaly in association with biallelic PALB2 variants was questioned. The consensus was for an amber rating.
Created: 19 Jul 2019, 1:44 p.m. | Last Modified: 19 Jul 2019, 1:44 p.m.
Panel Version: 1.49

emma baple (South West GMC)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PALB2.

19 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: palb2 has been classified as Amber List (Moderate Evidence).

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

30 Jan 2017, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

PALB2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other, Expert Review Green

30 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PALB2 was created by rfoulger