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Paediatric disorders - additional genes v1.96 | GREB1L | Eleanor Williams Tag gene-checked tag was added to gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.96 | GREB1L | Arina Puzriakova Tag for-review was removed from gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.96 | GREB1L | Sarah Leigh commented on gene: GREB1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.95 | GREB1L |
Arina Puzriakova Source Expert Review Green was added to GREB1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Paediatric disorders - additional genes v1.59 | GREB1L | Arina Puzriakova Classified gene: GREB1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.59 | GREB1L | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.59 | GREB1L | Arina Puzriakova Gene: greb1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.38 | GREB1L | Rebecca Foulger Classified gene: GREB1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.38 | GREB1L | Rebecca Foulger Gene: greb1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.37 | GREB1L | Rebecca Foulger Classified gene: GREB1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.37 | GREB1L | Rebecca Foulger Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.37 | GREB1L | Rebecca Foulger Gene: greb1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.36 | GREB1L | Rebecca Foulger Phenotypes for gene: GREB1L were changed from CAKUT; Renal hypodysplasia/aplasia 3, 617805 to CAKUT; Renal hypodysplasia/aplasia 3, 617805; inner ear malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.36 | GREB1L | Rebecca Foulger Publications for gene: GREB1L were set to 29100091; 29220675; 29261186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.35 | GREB1L | Rebecca Foulger commented on gene: GREB1L: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.35 | GREB1L |
Rebecca Foulger changed review comment from: 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. Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C.; to: 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. |
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Paediatric disorders - additional genes v1.35 | GREB1L | Rebecca Foulger Publications for gene: GREB1L were set to 29100091; 29220675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.34 | GREB1L |
Rebecca Foulger commented on gene: GREB1L: 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. Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C. |
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Paediatric disorders - additional genes v1.34 | GREB1L | Rebecca Foulger commented on gene: GREB1L: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.12 | GREB1L | Rebecca Foulger Classified gene: GREB1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.12 | GREB1L | Rebecca Foulger Gene: greb1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.4 | GREB1L | Rebecca Foulger Tag for-review tag was added to gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.4 | GREB1L | Rebecca Foulger commented on gene: GREB1L: Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.4 | GREB1L | Rebecca Foulger commented on gene: GREB1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v1.3 | GREB1L |
Rebecca Foulger 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 |