Facial papules

Gene: SUFU

Green List (high evidence)

SUFU (SUFU negative regulator of hedgehog signaling)
EnsemblGeneIds (GRCh38): ENSG00000107882
EnsemblGeneIds (GRCh37): ENSG00000107882
OMIM: 607035, Gene2Phenotype
SUFU is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

BCCs can present on the face and coarse facial features and facial milia can also be present but are milder than PTCH1-related NBCCS.
Sources: Expert list
Created: 19 Jun 2023, 1:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
nevoid basal cell carcinoma syndrome MONDO:0007187

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sufu has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sufu has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SUFU was added gene: SUFU was added to Facial papules. Sources: Expert list Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUFU were set to 20301330 Phenotypes for gene: SUFU were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: SUFU was set to GREEN gene: SUFU was marked as current diagnostic