PRUNE1

prune exopolyphosphatase 1
OMIM: 617413, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PRUNE1 in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 2.6 Signed off v.2.2 on 2 Mar 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes microcephaly, spasticity, developmental delay
Amber PRUNE1 in Fetal anomalies Version 1.73 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes PEHO Like condition
Amber PRUNE1 in DDG2P Version 2.8 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 PEHO Like condition
Green PRUNE1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.82 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 Expert Review Green Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 NMIHBA Complex neurological syndrome
Green PRUNE1 in Severe Paediatric Disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481