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Arthrogryposis

Gene: SCYL2

Amber List (moderate evidence)
SCYL2 (SCY1 like pseudokinase 2)
EnsemblGeneIds (GRCh38): ENSG00000136021
EnsemblGeneIds (GRCh37): ENSG00000136021
OMIM: 616365, Gene2Phenotype
SCYL2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 4 Dec 2020, 12:02 p.m.
Last Modified: 4 Dec 2020, 12:02 p.m.
Panel version: 3.31

Zornitza Stark (Australian Genomics)

I don't know

2 unrelated consanguineous families reported with AMC. Constitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits.
Sources: Literature
Created: 3 Jun 2020, 10:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita (AMC); Zain syndrome

Publications

Created: 3 Jun 2020, 10:53 a.m.

Panel version: 3.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • 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
Tags
watchlist
OMIM
616365
Clinvar variants
Variants in SCYL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: SCYL2.

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: scyl2 has been classified as Amber List (Moderate Evidence).

4 Dec 2020, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

3 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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