FIG4

FIG4 phosphoinositide 5-phosphatase
OMIM: 609390
PanelMode of inheritanceDetails
6 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yunis-Varon syndrome, OMIM:216340, Yunis-Varon syndrome, MONDO:0008995, Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Charcot-Marie-Tooth disease type 4J, MONDO:0012640, ?Polymicrogyria, bilateral temporooccipital, OMIM:612691, Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 11 OMIM:612577, amyotrophic lateral sclerosis type 11 MONDO:0012945, Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Charcot-Marie-Tooth disease type 4J MONDO:0012640, Yunis Varon syndrome OMIM:216340, Yunis-Varon syndrome MONDO:0008995
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Charcot-Marie-Tooth disease type 4J MONDO:0012640, Yunis Varon syndrome OMIM:216340, Yunis-Varon syndrome MONDO:0008995
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yunis Varon syndrome OMIM:216340, Yunis-Varon syndrome MONDO:0008995
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Charcot-Marie-Tooth disease type 4J MONDO:0012640, Yunis Varon syndrome OMIM:216340, Yunis-Varon syndrome MONDO:0008995
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Yunis-Varon syndrome, OMIM:216340, leukoencephalopathy, HP:0002352