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Mendeliome

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as MODERATE by ClinGen Syndromic Disorders GCEP on 20/09/2024 - https://search.clinicalgenome.org/CCID:008429
Created: 12 Nov 2024, 1:17 a.m. | Last Modified: 12 Nov 2024, 1:17 a.m.
Panel Version: 1.2135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome type 1 MONDO:0016368

Publications

  • https://search.clinicalgenome.org/CCID:008429

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note recurrent intronic variant present either in homozygous or compound heterozygous state in all reported individuals so far, c.2705−198C>T. Several of the families were Amish.
Created: 19 Nov 2020, 9:58 p.m. | Last Modified: 19 Nov 2020, 9:58 p.m.
Panel Version: 0.5392

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome, type 1 618625

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

Details

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

History Filter Activity

12 Nov 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: ANAPC1.

19 Nov 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deep intronic tag was added to gene: ANAPC1.

29 Jan 2020, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene ANAPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

29 Jan 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: ANAPC1 was added gene: ANAPC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ANAPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANAPC1 were set to PMID: 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM 618625 Review for gene: ANAPC1 was set to GREEN gene: ANAPC1 was marked as current diagnostic