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  3. KRIT1
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Additional findings_Paediatric

Gene: KRIT1

Amber List (moderate evidence)
KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, potentially actionable in childhood.
Created: 25 Sep 2020, 7:34 a.m. | Last Modified: 25 Sep 2020, 7:34 a.m.
Panel Version: 0.69
Created: 25 Sep 2020, 7:34 a.m.
Last Modified: 25 Sep 2020, 7:34 a.m.
Panel version: 0.69

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's.
Sources: Expert list
Created: 25 Sep 2020, 5:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral cavernous malformations-1 MIM# 116860

Publications

Created: 25 Sep 2020, 5:46 a.m.

Panel version: 0.47

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cerebral cavernous malformations-1 MIM# 116860
OMIM
604214
Clinvar variants
Variants in KRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krit1 has been classified as Amber List (Moderate Evidence).

25 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krit1 has been classified as Amber List (Moderate Evidence).

25 Sep 2020, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: KRIT1 was added gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860 Review for gene: KRIT1 was set to AMBER