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  2. Fetal anomalies
  3. KRIT1
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Fetal anomalies

Gene: KRIT1

Green List (high evidence)
KRIT1 (KRIT1, ankyrin repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000001631
EnsemblGeneIds (GRCh37): ENSG00000001631
OMIM: 604214, Gene2Phenotype
KRIT1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. One case has been reported for a Biallelic variant in this gene prenatally, for a different phenotype (PMID: 28749478). Action taken: Promoted KRIT1 gene rating from Amber to Green.
Created: 24 Mar 2019, 9:26 p.m.
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
Created: 12 Feb 2019, 2:32 p.m.
Rating in original PAGE file: 'both DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
Created: 6 Dec 2018, 10:07 a.m.

Publications

Created: 6 Dec 2018, 10:07 a.m.

Panel version: 0.148

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1
OMIM
604214
Clinvar variants
Variants in KRIT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 3

Added New Source, Set publications, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to KRIT1. Publications for gene KRIT1 were changed from to 28749478 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Feb 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to KRIT1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KRIT1 was added gene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1