Severe microcephaly
Gene: CHAMP1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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 paperCreated: 5 May 2021, 2:34 p.m. | Last Modified: 5 May 2021, 2:34 p.m.
Panel Version: 2.130
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 listCreated: 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
Tag Q2_21_rating was removed from gene: CHAMP1.
Source Expert Review Green was added to CHAMP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: champ1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: CHAMP1.
Publications for gene: CHAMP1 were set to 27148580; 26340335
Phenotypes for gene: CHAMP1 were changed from Mental retardation, autosomal dominant 40 (MIM#616579) to Mental retardation, autosomal dominant 40, OMIM:616579
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