ATR

ATR serine/threonine kinase
OMIM: 601215
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564, SECKEL SYNDROME TYPE 1 (SCKL1)
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPD, microcephalic primordial dwarfism, Seckel syndrome 1, 210600, MICROCEPHALIC PRIMORDIAL DWARFISM I