Pigmentary skin disorders

Gene: BLM

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 10 Dec 2025, 3:28 p.m. | Last Modified: 10 Dec 2025, 3:28 p.m.

Panel Version: 4.10

I don't know

Comment on list classification: Promoting this gene to amber with a recommendation for a green rating following NHS GMS review. After consultation with the Genomics England clinical team, their recommendation is for green as there are management implications (including avoiding exposures / ionising radiation) so the view is that is reasonable to include on this panel.

Created: 27 Jun 2025, 7:42 p.m. | Last Modified: 27 Jun 2025, 7:42 p.m.

Panel Version: 4.4

The gene BLM is associated with Bloom syndrome in OMIM (OMIM:210900, AR) and with a definitive rating in ClinGen (Autosomal recessive inheritance). PMID: 7485150 (Ellis et al 1995),

Bloom syndrome is an inherited DNA repair disorder, can present with symmetric growth deficiency (pre- or postnatal onset) and a sun-sensitive facial ‘butterfly’ rash ( https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-clinical-suspicion-of-bloom-syndrome/) It can include areas of skin hyperpigmentation and hypopigmentation.

PMID: 32972601 Lalor et al 2020 - Café au lait spots: When and how to pursue their genetic origins.

Confirming with our rare disease clinical team whether this gene is appropriate for the panel.

Created: 17 Jun 2025, 8:45 p.m. | Last Modified: 17 Jun 2025, 8:45 p.m.

Panel Version: 4.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 7485150

Green List (high evidence)

Included in the review PMID: 32972601 as differential for cafe-au-lait
Sources: Expert Review

Created: 23 Apr 2024, 8:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bloom syndrome

Publications

• PMID: 32972601