1. Panels
  2. BRIDGE_SPEED_NEURO_v2.0_20160416
  3. ATCAY
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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: ATCAY

Red List (low evidence)
ATCAY (ATCAY, caytaxin)
EnsemblGeneIds (GRCh38): ENSG00000167654
EnsemblGeneIds (GRCh37): ENSG00000167654
OMIM: 608179, Gene2Phenotype
ATCAY is in 6 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

omim_20150205_movement; neuro_20160418_strict; NA
Created: 7 Feb 2017, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, cerebellar, Cayman type, 601238

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:11 p.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE
Phenotypes
  • Ataxia, cerebellar, Cayman type, 601238
OMIM
608179
Clinvar variants
Variants in ATCAY
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATCAY was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ATCAY was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE