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Arthrogryposis v2.45 SMPD4 Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.; to: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases support gene-disease association.
Arthrogryposis v2.45 SMPD4 Louise Daugherty changed review comment from: Comment on publications: Publication Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.; to: Comment on publications: Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Arthrogryposis v2.45 SMPD4 Louise Daugherty Classified gene: SMPD4 as Green List (high evidence)
Arthrogryposis v2.45 SMPD4 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Arthrogryposis v2.45 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Green List (High Evidence).
Arthrogryposis v2.44 SMPD4 Louise Daugherty Tag watchlist was removed from gene: SMPD4.
Arthrogryposis v2.44 SMPD4 Louise Daugherty Added comment: Comment on publications: Publication Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Arthrogryposis v2.44 SMPD4 Louise Daugherty Publications for gene: SMPD4 were set to
Arthrogryposis v2.29 SMPD4 Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
Arthrogryposis v2.29 SMPD4 Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
Arthrogryposis SMPD4 Arianna Tucci Added gene to panel