POLR1C

Green POLR1C in White matter disorders and cerebral calcification - narrow panel

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

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Leukodystrophy, hypomyelinating, 11

Green POLR1C in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.27

Sources

• Expert Review Green
• Emory Genetics Laboratory
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Bilateral Microtia
• 248390
• Causes Treacher Collins syndrome which is highly variable
• Treacher Collins syndrome 3

Amber POLR1C in Adult onset leukodystrophy

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

Sources

• Expert Review Amber
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• Leukodystrophy, hypomyelinating, 11

Green POLR1C in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180

Sources

• Expert Review Green
• Expert list
• Radboud University Medical Center, Nijmegen

Phenotypes

• Leukodystrophy, hypomyelinating, 11 616494

Green POLR1C in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Treacher Collins syndrome 3 248390

Green POLR1C in Fetal anomalies

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

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• TREACHER COLLINS SYNDROME TYPE 3

Green POLR1C in DDG2P

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

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• TREACHER COLLINS SYNDROME TYPE 3 248390

Red POLR1C in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert

Green POLR1C in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• TREACHER COLLINS SYNDROME 3
• TCS3

Green POLR1C in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Leukodystrophy, hypomyelinating, 11, OMIM:616494

Red POLR1C in Structural eye disease

Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS

Phenotypes

• Treacher-Collins Syndrome, 248390

Green POLR1C in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Treacher Collins syndrome 3, 248390
• Leukodystrophy, hypomyelinating, 11, 616494