Genomics England

FIG4

FIG4 phosphoinositide 5-phosphatase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228, CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	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
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BOTH monoallelic and 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
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	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
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Yunis Varon syndrome OMIM:216340, Yunis-Varon syndrome MONDO:0008995
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	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
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Charcot-Marie-Tooth disease, type 4J, OMIM:611228, Yunis-Varon syndrome, OMIM:216340, leukoencephalopathy, HP:0002352