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Ectodermal Dysplasia

Gene: ANAPC1

Green List (high evidence)
ANAPC1 (anaphase promoting complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000153107
EnsemblGeneIds (GRCh37): ENSG00000153107
OMIM: 608473, Gene2Phenotype
ANAPC1 is in 5 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note 4 of 7 families were homozygous for the same deep intronic variant (c.2705-198C-T) and the remaining 3 affected families were compound heterozygous (c.2705-198C-T with another variant in the gene).
Created: 15 Aug 2021, 4:30 a.m. | Last Modified: 15 Aug 2021, 4:30 a.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund Thomson syndrome type 1, #MIM:618625, MONDO:0016368

Publications

Created: 15 Aug 2021, 4:30 a.m.
Last Modified: 15 Aug 2021, 4:30 a.m.
Panel version: 0.54

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

7 cases from 5 families with biallelic variants (3 different variants) have at least 2 ectodermal features as part of the phenotype.
Sources: NHS GMS
Created: 17 May 2021, 7:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome, type 1 MIM#618625

Publications

Created: 17 May 2021, 7:03 a.m.

Panel version: 0.49

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

7 unrelated families reported
Sources: Literature
Created: 29 Jan 2020, 4:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Rothmund Thomson syndrome type 1, OMIM 618625

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Jan 2020, 4:48 a.m.

Panel version: Imported from Mendeliome panel version 0.1020

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund-Thomson syndrome, type 1 MIM#618625
  • MONDO:0016368
Tags
deep intronic
OMIM
608473
Clinvar variants
Variants in ANAPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson syndrome, type 1 MIM#618625 to Rothmund-Thomson syndrome, type 1 MIM#618625; MONDO:0016368

15 Aug 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: ANAPC1.

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: anapc1 has been classified as Green List (High Evidence).

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: anapc1 has been classified as Green List (High Evidence).

17 May 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ANAPC1 was added gene: ANAPC1 was added to Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson syndrome, type 1 MIM#618625 Review for gene: ANAPC1 was set to GREEN