Childhood solid tumours
Gene: RECQL4
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson Syndrome
Comment on list classification: Elevated risk of tumours in childhood including sarcomaCreated: 7 Mar 2016, 11:50 p.m.
Phenotypes for gene: RECQL4 were changed from Rothmund Thomson Syndrome; 268400 to Rothmund-Thomson syndrome, type 2, OMIM:268400
Source NHS GMS was added to RECQL4. Added phenotypes Rothmund Thomson Syndrome for gene: RECQL4 Publications for gene RECQL4 were changed from 11471165 to 20503338
Source Expert List was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
RECQL4 was created by Reviewer_03
RECQL4 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Expert list