Pigmentary skin disordersGene: PALB2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN
Comment on mode of inheritance: Advice from clinical team to change PALB2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Created: 28 Nov 2019, 2:16 p.m. | Last Modified: 28 Nov 2019, 2:16 p.m.
Panel Version: 0.16
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PALB2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.
Added phenotypes FANCN; FANCONI ANEMIA, COMPLEMENTATION GROUP N for gene: PALB2 Publications for gene PALB2 were changed from to 17200672
Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Source London North GLH was added to PALB2.
gene: PALB2 was added gene: PALB2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PALB2 were set to Fanconi Anaemia