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Structural eye disease
Gene: POLR1D

POLR1D (RNA polymerase I subunit D)
EnsemblGeneIds (GRCh38): ENSG00000186184
EnsemblGeneIds (GRCh37): ENSG00000186184
OMIM: 613715, Gene2Phenotype
POLR1D is in 8 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

FC - eyelid coloboma can be present in Treacher-Collins Syndrome
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher-Collins Syndrome 2; 613717

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - eyelid coloboma can be present in Treacher-Collins Syndrome
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher-Collins Syndrome 2; 613717

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS

Phenotypes

Treacher Collins syndrome 2, OMIM:613717

OMIM

613715

Clinvar variants

Variants in POLR1D

Penetrance

None

Panels with this gene

History Filter Activity

10 Feb 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POLR1D were changed from Treacher-Collins Syndrome 2, 613717 to Treacher Collins syndrome 2, OMIM:613717

10 Feb 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: POLR1D was added gene: POLR1D was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POLR1D were set to Treacher-Collins Syndrome 2, 613717

Structural eye disease Gene: POLR1D