07 Oct 2019
Intellectual disability - microarray and sequencing v2.1064
SMPD4
Louise Daugherty Classified gene: SMPD4 as Green List (high evidence)
07 Oct 2019
Intellectual disability - microarray and sequencing v2.1064
SMPD4
Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, support gene-disease association.
07 Oct 2019
Intellectual disability - microarray and sequencing v2.1064
SMPD4
Louise Daugherty Gene: smpd4 has been classified as Green List (High Evidence).
07 Oct 2019
Intellectual disability - microarray and sequencing v2.1063
SMPD4
Louise Daugherty Tag watchlist was removed from gene: SMPD4.
07 Oct 2019
Intellectual disability - microarray and sequencing v2.1063
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.
07 Oct 2019
Intellectual disability - microarray and sequencing v2.1063
SMPD4
Louise Daugherty Publications for gene: SMPD4 were set to
17 Sep 2018
Intellectual disability - microarray and sequencing v2.419
SMPD4
Louise Daugherty Classified gene: SMPD4 as Amber List (moderate evidence)
17 Sep 2018
Intellectual disability - microarray and sequencing v2.419
SMPD4
Louise Daugherty Gene: smpd4 has been classified as Amber List (Moderate Evidence).
05 Jul 2018
Intellectual disability - microarray and sequencing
SMPD4
Arianna Tucci Added gene to panel
05 Jul 2018
Intellectual disability - microarray and sequencing
SMPD4
Arianna Tucci Added gene to panel