PRUNE1

Green PRUNE1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0 (1 May 2024)

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

Green PRUNE1 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• Expert Review Green
• 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

Green PRUNE1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• PEHO Like condition

Green PRUNE1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

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 1.184

Sources

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

Phenotypes

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