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Severe microcephaly

Gene: CHAMP1

Amber List (moderate evidence)

CHAMP1 (chromosome alignment maintaining phosphoprotein 1)
EnsemblGeneIds (GRCh38): ENSG00000198824
EnsemblGeneIds (GRCh37): ENSG00000198824
OMIM: 616327, Gene2Phenotype
CHAMP1 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 5 May 2021, 2:35 p.m. | Last Modified: 5 May 2021, 2:35 p.m.
Panel Version: 2.131
Comment on publications: PMID: 26751395 additional paper
Created: 5 May 2021, 2:34 p.m. | Last Modified: 5 May 2021, 2:34 p.m.
Panel Version: 2.130

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 27148580;
- 10 patients including 5 from Hempel et al (PMID: 26340335)
- 7 with microcephaly defined as <3rd centile
- all PTVs and de novo

PMID: 26340335;
- 5 unrelated patients OFC at birth ranges from -0.4 to -3.1 SD
Sources: Expert list
Created: 4 Sep 2020, 10:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 40 (MIM#616579)

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Mental retardation, autosomal dominant 40, OMIM:616579
Tags
Q2_21_rating
OMIM
616327
Clinvar variants
Variants in CHAMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: champ1 has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CHAMP1.

5 May 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CHAMP1 were set to 27148580; 26340335

5 May 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CHAMP1 were changed from Mental retardation, autosomal dominant 40 (MIM#616579) to Mental retardation, autosomal dominant 40, OMIM:616579

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CHAMP1 was added gene: CHAMP1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAMP1 were set to 27148580; 26340335 Phenotypes for gene: CHAMP1 were set to Mental retardation, autosomal dominant 40 (MIM#616579) Review for gene: CHAMP1 was set to GREEN gene: CHAMP1 was marked as current diagnostic