Cerebellar hypoplasia
Gene: SMPD4As a result of watchlist tag audit the watchlist tag was removed from SMPD4- this is now a green gene.Created: 13 Jan 2020, 11:32 a.m. | Last Modified: 13 Jan 2020, 11:32 a.m.
Panel Version: 1.39
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, support gene-disease association.Created: 7 Oct 2019, 10:30 a.m. | Last Modified: 7 Oct 2019, 10:30 a.m.
Panel Version: 1.39
Comment on publications: Magini P et al. (October 2019) Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.Created: 7 Oct 2019, 10:30 a.m. | Last Modified: 7 Oct 2019, 10:30 a.m.
Panel Version: 1.38
Work presented at ESHG 2018 by Pamela Magini. Still unpublisheCreated: 5 Jul 2018, 9:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
Tag watchlist was removed from gene: SMPD4.
Gene: smpd4 has been classified as Green List (High Evidence).
Publications for gene: SMPD4 were set to
Gene: smpd4 has been classified as Amber List (Moderate Evidence).
SMPD4 was added to Cerebellar hypoplasia panel. Sources: Research
SMPD4 was created by Arianna Tucci