FIG4

FIG4 phosphoinositide 5-phosphatase
OMIM: 609390, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green FIG4 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995
Green FIG4 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.24 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 4J, OMIM:611228 Yunis-Varon syndrome, OMIM:216340 leukoencephalopathy, HP:0002352
Green FIG4 in Limb disorders Level 2: Musculoskeletal Version 7.25 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995
Amber FIG4 in Malformations of cortical development Level 2: Neurology Version 7.50 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes ?Polymicrogyria, bilateral temporooccipital OMIM:612691 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0012986
Green FIG4 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.40 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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
Red FIG4 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.21 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH 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
Green FIG4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype 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 FIG4 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.74	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services 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 FIG4 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340
Green FIG4 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.508	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Yunis Varon syndrome, 216340 Yunis Varon syndrome, 216340 Amyotrophic lateral sclerosis 11, 612577 Charcot Marie Tooth disease, type 4J, 611228 Amyotrophic lateral sclerosis 11, 612577
Red FIG4 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.176 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services
Green FIG4 in Intellectual disability Level 2: Developmental disorders Version 9.370 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 FIG4 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.45 Latest signed off version: v7.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH 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