Genomics England
GMS Panels
Panels
Genes and Entities

ATR

ATR serine/threonine kinase
OMIM: 601215
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1, OMIM:210600, Seckel syndrome 1, MONDO:0008869
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564, SECKEL SYNDROME TYPE 1 (SCKL1)
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPD, microcephalic primordial dwarfism, Seckel syndrome 1, 210600, MICROCEPHALIC PRIMORDIAL DWARFISM I