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Fetal anomalies v0.4126 SPRED1 Zornitza Stark Marked gene: SPRED1 as ready
Fetal anomalies v0.4126 SPRED1 Zornitza Stark Gene: spred1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4126 SPRED1 Zornitza Stark Phenotypes for gene: SPRED1 were changed from LEGIUS SYNDROME to Legius syndrome, MIM# 611431
Fetal anomalies v0.4125 SPRED1 Zornitza Stark Publications for gene: SPRED1 were set to
Fetal anomalies v0.4124 SPRED1 Zornitza Stark Mode of inheritance for gene: SPRED1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.4123 SPRED1 Zornitza Stark Classified gene: SPRED1 as Red List (low evidence)
Fetal anomalies v0.4123 SPRED1 Zornitza Stark Gene: spred1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.4122 SPRED1 Zornitza Stark changed review comment from: Multiple affected individuals reported, deletions account for ~10% of causative variants. Legius syndrome is characterised by multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. It is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. The SPRED1 gene encodes a negative regulator of the RAS-MAPK pathway, similar to neurofibromin.; to: Multiple affected individuals reported, deletions account for ~10% of causative variants. Legius syndrome is characterised by multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. It is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. The SPRED1 gene encodes a negative regulator of the RAS-MAPK pathway, similar to neurofibromin.

Clinical presentation is typically post-natal.
Fetal anomalies v0.4122 SPRED1 Zornitza Stark edited their review of gene: SPRED1: Changed rating: RED
Fetal anomalies v0.0 SPRED1 Zornitza Stark gene: SPRED1 was added
gene: SPRED1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME