PRUNE1

Green PRUNE1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.267
Latest signed off version: v2.2 (2 Mar 2020)

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• microcephaly, spasticity, developmental delay
• Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
• neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490

Amber PRUNE1 in Fetal anomalies

Version 1.749
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• Expert Review Amber
• PAGE DD-Gene2Phenotype

Phenotypes

• Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481
• Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490

Tags

• for-review

Amber PRUNE1 in DDG2P

Version 2.50
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

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 3.1396
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review Green
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
• neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
• NMIHBA
• Complex neurological syndrome

Green PRUNE1 in Severe Paediatric Disorders

Version 1.84

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481