FIG4

FIG4 phosphoinositide 5-phosphatase
OMIM: 609390
PanelMode of inheritanceDetails
5 panels
R-numbers: R78
Signed-off version 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot Marie Tooth disease, type 4J, 611228, Amyotrophic lateral sclerosis 11, 612577, Yunis Varon syndrome, 216340
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
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aplastic/hypoplastic thumbs, Yunis-Varon syndrome, 216340, absent thumbs
R-numbers: R58
Signed-off version 2.178
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Amyotrophic lateral sclerosis 11, OMIM:612577
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yunis-Varon syndrome 216340, Amyotrophic lateral sclerosis 11 612577, Yunis-Varon syndrome 216340