This Panel is marked as Deleted
GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: CRELD1
CRELD1 (cysteine rich with EGF like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000163703
EnsemblGeneIds (GRCh37): ENSG00000163703
OMIM: 607170, Gene2Phenotype
CRELD1 is in 11 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CRELD1; Suggested intial gene rating: Green; Evidence for inclusion: OMIM AVSD with heterotaxy syndrome; association w/ AVSD in Down syndrome patients; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 607170
- Clinvar variants
- Variants in CRELD1
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Paediatric disorders - additional genes
- Familial non syndromic congenital heart disease
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Nov 2018, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CRELD1. Rating Changed from Red List (low evidence) to Green List (high evidence)
26 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CRELD1 was added gene: CRELD1 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: CRELD1 was set to