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| Paediatric disorders - additional genes v1.96 | LRIG2 | Arina Puzriakova Tag for-review was removed from gene: LRIG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | LRIG2 | Sarah Leigh commented on gene: LRIG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.95 | LRIG2 |
Arina Puzriakova Source Expert Review Green was added to LRIG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.48 | LRIG2 | Rebecca Foulger Classified gene: LRIG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.48 | LRIG2 | Rebecca Foulger Gene: lrig2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.47 | LRIG2 | Rebecca Foulger Classified gene: LRIG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.47 | LRIG2 | Rebecca Foulger Added comment: Comment on list classification: Three unrelated cases reported in PMID:23313374 (Stuart et al., 2013), although in one of the families siblings with the same homozygous variant report differing phenotypes. There is also an animal model. The facial phenotype that occurs alongside the urinary tract phenotype is an abnormal facial expression upon smiling rather than a congenital structural phenotype. Therefore have kept Amber for now awaiting clinical review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.47 | LRIG2 | Rebecca Foulger Gene: lrig2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.46 | LRIG2 |
Rebecca Foulger commented on gene: LRIG2: PMID:23313374. Stuart et al., 2013 performed exome sequencing in affected siblings from a consanguineous Turkish family with urofacial syndrome. A 1bp deletion variant resulting in premature termination (Glu140AspfsTer6) was found in an 8 year old girl, but also in her 5 year old brother who exhibited the facial features but not CAKUT phenotype. The variant was found in heterozygosity in the unaffected first-cousin parents. In a second Turkish family with urofacial syndrome, two affected sisters were homozygous for a nonsense LRIG2 variant (R709X). A third case comes from a 5year old Spanish girl compound het for a 1bp deletion (Ser697HisfsTer11) and 371bp insertion variant in LRIG2. Her unaffected parents were each heterozygous for one of the variants. Facial phenotypes of Urofacial syndrome include grimacing on smiling. |
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| Paediatric disorders - additional genes v1.46 | LRIG2 | Rebecca Foulger Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.45 | LRIG2 | Rebecca Foulger Phenotypes for gene: LRIG2 were changed from CAKUT; Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome to CAKUT; Urofacial syndrome 2, 615112; Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.14 | LRIG2 | Rebecca Foulger Classified gene: LRIG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.14 | LRIG2 | Rebecca Foulger Gene: lrig2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.4 | LRIG2 | Rebecca Foulger Tag for-review tag was added to gene: LRIG2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.4 | LRIG2 | Rebecca Foulger commented on gene: LRIG2: 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 | LRIG2 | Rebecca Foulger commented on gene: LRIG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.3 | LRIG2 |
Rebecca Foulger gene: LRIG2 was added gene: LRIG2 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013. Phenotypes for gene: LRIG2 were set to CAKUT; Congenital bladder disease: dyssynergic, high pressure bladder.; Urofacial syndrome |
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