Genomics England
GMS Panels
Panels
Genes and Entities

ARCN1

archain 1
OMIM: 600820
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Microcephalic dwarfism, Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164