Arthrogryposis
Gene: SCYL2Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 2 unrelated families reported at present with different SCYL2 variants and a syndromic form of severe AMC comprising microcephaly, absent corpus callosum, optic atrophy, limb fractures, profound GDD, and early lethality. Rating Amber as additional cases required before inclusion on a diagnostic panel (added 'watchlist' tag).Created: 4 Dec 2020, 12:02 p.m. | Last Modified: 4 Dec 2020, 12:02 p.m.
Panel Version: 3.31
2 unrelated consanguineous families reported with AMC. Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits.
Sources: LiteratureCreated: 3 Jun 2020, 10:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita (AMC); Zain syndrome
Publications
Tag watchlist tag was added to gene: SCYL2.
Gene: scyl2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SCYL2 were changed from Arthrogryposis multiplex congenita (AMC); Zain syndrome to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766; Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MONDO:0032903
gene: SCYL2 was added gene: SCYL2 was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL2 were set to 31960134; 26203146 Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita (AMC); Zain syndrome Review for gene: SCYL2 was set to AMBER