FIG4

FIG4 phosphoinositide 5-phosphatase
OMIM: 609390, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green FIG4 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Yunis-Varon syndrome, 216340 Aplastic/hypoplastic thumbs absent thumbs
No list FIG4 in White matter disorders and cerebral calcification - narrow panel Version 1.32 Signed off v.1.12 on 2 Mar 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Charcot-Marie-Tooth disease, type 4J 611228 Yunis-Varon syndrome 216340 leukoencephalopathy
Green FIG4 in Limb disorders Version 2.32 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Aplastic/hypoplastic thumbs Yunis-Varon syndrome, 216340 absent thumbs
No list FIG4 in Malformations of cortical development Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 2.42 Signed off v.2.2 on 25 Feb 2020 Component of the following Super Panels: Cerebral malformations	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes Polymicrogyria with epilepsy MIM# 612691
Green FIG4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.76 Signed off v.2.2 on 13 Feb 2020 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 Yunis-Varon syndrome 216340 Amyotrophic lateral sclerosis 11 612577 Yunis-Varon syndrome 216340
Green FIG4 in Neurodegenerative disorders - adult onset Version 2.38 Signed off v.2.31 on 8 Oct 2020	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4J, 611228 Amyotrophic Lateral Sclerosis, Dominant
Amber FIG4 in Fetal anomalies Version 1.185 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Green FIG4 in Amyotrophic lateral sclerosis/motor neuron disease Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.29	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Amyotrophic Lateral Sclerosis, Dominant Charcot-Marie-Tooth disease, type 4J, 611228
Amber FIG4 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Amber 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 1.383	review	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 Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.274 Signed off v.2.2 on 13 Feb 2020	review	Not set	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Victorian Clinical Genetics Services
Green FIG4 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.740 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Green FIG4 in Hereditary neuropathy NOT PMP22 copy number Version 1.21 Signed off v.1.2 on 27 Feb 2020	review	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 Charcot Marie Tooth disease, type 4J, 611228 Amyotrophic lateral sclerosis 11, 612577 Yunis Varon syndrome, 216340
Green FIG4 in Severe Paediatric Disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, type 4J, 611228 Yunis-Varon syndrome, 216340 ?Polymicrogyria, bilateral temporooccipital, 612691 Amyotrophic lateral sclerosis 11, 612577