Genomics England
GMS Panels
Panels
Genes and Entities

ASPM

abnormal spindle microtubule assembly
OMIM: 605481
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
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
Microcephaly 5, primary, autosomal recessive, 608716, PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 5, primary, autosomal recessive 608716
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 5, primary, autosomal recessive, MCPH, primary microcephaly, Primary Microcephaly, Recessive, Autosomal recessive primary microcephaly (MCPH), Microcephaly 5, primary, autosomal recessive, 608716, Microcephaly 5, Primary, Autosomal Recessive