Paediatric disorders - additional genes
Gene: GREB1LThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 2:47 p.m. | Last Modified: 20 Oct 2020, 2:47 p.m.
Panel Version: 1.59
Comment on list classification: Updated rating from Amber to Green awaiting GLH review: although the predominant phenotype is renal defects, inner ear malformations are also included in the phenotypic spectrum (PMID:29955957).Created: 14 May 2020, 3:22 p.m. | Last Modified: 14 May 2020, 3:22 p.m.
Panel Version: 1.37
PMID:29955957. Schrauwen et al., 2018 performed trio-based WES sequencing in young unrelated subjects with inner ear malformations, and identified novel de novo LOF variants in GREB1L (Glu1410fs and Arg328*) in 2 affected subjects with absent cochleae and eighth cranial nerve malformations.Created: 14 May 2020, 3:21 p.m. | Last Modified: 14 May 2020, 3:21 p.m.
Panel Version: 1.35
PMID:29100091. Tomasi et al., 2017. WES or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L. Family histories and phenotypes suggest incomplete penetrance.Created: 14 May 2020, 3:16 p.m. | Last Modified: 14 May 2020, 3:18 p.m.
Panel Version: 1.35
PMID:29261186 (Boissel et al., 2018) performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases who presented with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X).Created: 14 May 2020, 3:16 p.m. | Last Modified: 14 May 2020, 3:16 p.m.
Panel Version: 1.34
Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.Created: 12 May 2020, 4:19 p.m. | Last Modified: 12 May 2020, 4:19 p.m.
Panel Version: 1.4
Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106.Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.
Panel Version: 1.4
Tag gene-checked tag was added to gene: GREB1L.
Tag for-review was removed from gene: GREB1L.
Source Expert Review Green was added to GREB1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: greb1l has been classified as Amber List (Moderate Evidence).
Gene: greb1l has been classified as Green List (High Evidence).
Gene: greb1l has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: GREB1L were changed from CAKUT; Renal hypodysplasia/aplasia 3, 617805 to CAKUT; Renal hypodysplasia/aplasia 3, 617805; inner ear malformations
Publications for gene: GREB1L were set to 29100091; 29220675; 29261186
Publications for gene: GREB1L were set to 29100091; 29220675
Gene: greb1l has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GREB1L.
gene: GREB1L was added gene: GREB1L was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GREB1L were set to 29100091; 29220675 Phenotypes for gene: GREB1L were set to CAKUT; Renal hypodysplasia/aplasia 3, 617805