INTS1

Green INTS1 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817

Red INTS1 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services

Phenotypes

• Cleft palate

Green INTS1 in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Literature

Phenotypes

• Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571

Green INTS1 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Literature

Phenotypes

• Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571

Green INTS1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571