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Mandibulofacial Acrofacial dysostosis
Gene: POLR1D

POLR1D (RNA polymerase I subunit D)
EnsemblGeneIds (GRCh38): ENSG00000186184
EnsemblGeneIds (GRCh37): ENSG00000186184
OMIM: 613715, Gene2Phenotype
POLR1D is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 30 individuals reported, evidence for both mono-allelic and bi-allelic variants causing disease. Zebrafish model.
Created: 8 Aug 2021, 4:59 a.m. | Last Modified: 8 Aug 2021, 4:59 a.m.

Panel Version: 0.71

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Treacher Collins syndrome 2, MIM# 613717

Publications

Created: 8 Aug 2021, 4:59 a.m.
Last Modified: 8 Aug 2021, 4:59 a.m.
Panel version: 0.75

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Treacher Collins syndrome 2, MIM# 613717

OMIM

Clinvar variants

Variants in POLR1D

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr1d has been classified as Green List (High Evidence).

8 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLR1D were changed from to Treacher Collins syndrome 2, MIM# 613717

8 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1D were set to

8 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLR1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR1D was added gene: POLR1D was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLR1D was set to Unknown