BCAP31

B-cell receptor associated protein 31
OMIM: 300398
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 1.137
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS, Deafness, dystonia and cerebellar hypomyelination, 300475
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Deafness, dystonia and cerebellar hypomyelination, 300475