EPPK1

epiplakin 1
OMIM: 607553, Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Red EPPK1 in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Red EPPK1 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: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Expert Review Red

Panel

Reviews

Mode of inheritance

Details

Red EPPK1 in Autism

Version 0.36

review

Not set

Sources

Expert Review Red
SFARI

Red EPPK1 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:

Childhood onset leukodystrophy

Hypotonic infant

Paediatric disorders

review

Not set

Sources

Expert Review Red