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Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Tag watchlist was removed from gene: SMPD4.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty commented on gene: SMPD4: As a result of watchlist tag audit the watchlist tag was removed from SMPD4- this is now a green gene.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Classified gene: SMPD4 as Green List (high evidence)
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, support gene-disease association.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Green List (High Evidence).
Cerebellar hypoplasia v1.38 SMPD4 Louise Daugherty Added comment: Comment on publications: Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Cerebellar hypoplasia v1.38 SMPD4 Louise Daugherty Publications for gene: SMPD4 were set to
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Cerebellar hypoplasia v1.20 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Cerebellar hypoplasia SMPD4 Arianna Tucci Added gene to panel