Severe microcephaly
Gene: PALB2EnsemblGeneIds (GRCh38): ENSG00000083093
EnsemblGeneIds (GRCh37): ENSG00000083093
OMIM: 610355, Gene2Phenotype
PALB2 is in 26 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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 AmberCreated: 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)
Comment on list classification: As per structural neurological working group webex on 11th July 2019Created: 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Other
- Phenotypes
-
- Fanconi anemia, complementation group N, 610832 (microcephaly)
- OMIM
- 610355
- Clinvar variants
- Variants in PALB2
- Penetrance
- Complete
- Panels with this gene
-
- Inherited pancreatic cancer
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Familial breast cancer
- Limb disorders
- Haematological malignancies cancer susceptibility
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Breast cancer pertinent cancer susceptibility
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Familial prostate cancer
- Inherited breast cancer and ovarian cancer
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Inherited prostate cancer
- Childhood solid tumours
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PALB2.
Entity classified by Genomics England curator
Helen Brittain (Genomics England Curator)Gene: palb2 has been classified as Amber List (Moderate Evidence).
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.
Added New Source
Rebecca Foulger (Genomics England curator)PALB2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other, Expert Review Green
Created
Rebecca Foulger (Genomics England curator)PALB2 was created by rfoulger