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Severe microcephaly v2.150 | PPP1R15B | Eleanor Williams changed review comment from: Comment on list classification: Promoting from red to amber. 3 unrelated cases with microcephaly, but two have the same variant reported.; to: Comment on list classification: Promoting from red to amber. 3 unrelated cases with microcephaly (2 severe), but two have the same variant reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.149 | PPP1R15B |
Eleanor Williams Added comment: Comment on publications: Previous publication entry: 26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C);26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution. |
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Severe microcephaly v2.149 | PPP1R15B | Eleanor Williams Publications for gene: PPP1R15B were set to 26307080: In a Canadian sister and brother, born of second-cousin parents, with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination, and intellectual disability, Kernohan et al. (2015) identified homozygosity for a c.1972C-T mutation in PPP1R15B (R658C); 26159176: In a brother and sister from a consanguineous Algerian family with microcephaly, short stature, intellectual disability, and diabetes (MSSGM2, 616817), Abdulkarim et al. (2015) identified homozygosity for the R658C substitution. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.148 | PPP1R15B | Eleanor Williams Classified gene: PPP1R15B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.148 | PPP1R15B | Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber. 3 unrelated cases with microcephaly, but two have the same variant reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.148 | PPP1R15B | Eleanor Williams Gene: ppp1r15b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.147 | PPP1R15B |
Eleanor Williams changed review comment from: Associated with Microcephaly, short stature, and impaired glucose metabolism 2 #616817 in OMIM. PubMed: 27640355 - Mohammad et al 2016 - report WES of 2 siblings who presented with cirrhosis and required liver transplantation at age 7 and 22 months. Compound heterozygous mutations in PPP1R15B were identified. Microcephaly was also noted in both siblings. One sibling at age 4 years had head circumference at the third percentile, the other had holoprosencephaly and head circumference was below the 3rd percentile for gestational age at birth. Compound het variants in PPP1R15B; c.63G>A (p.W21*), inherited from the father, and c.674delC (p.P225LfsX10), inherited from the mother. PubMed: 26159176 - Abdulkarim et al 2015 - report a homozygous c.1972C>T, p.R658C variant in PPP1R15B in two siblings from a consanguineous family of Algerian origin with young-onset diabetes, microcephaly, and short stature. First sibling had adult cranial perimeter: 46 cm, −4.0 SD. The sister had a similar presentation but was not available for detailed evaluation. PubMed: 26307080 - Kernohan et al 2015 - report a consanguineous family (ethnicity not stated) with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings and a homozygous c.1972G>A; p.R658C variant in PPP1R15B. First sibling had head circumference of 28.5 cm (−5.0 SD) at birth, second sibling had a head circumference of head circumference of 37 cm (−6 to −7 SD) at 15 months.; to: Associated with Microcephaly, short stature, and impaired glucose metabolism 2 #616817 in OMIM. PubMed: 27640355 - Mohammad et al 2016 - report WES of 2 siblings who presented with cirrhosis and required liver transplantation at age 7 and 22 months. Compound heterozygous mutations in PPP1R15B were identified. Microcephaly was also noted in both siblings. One sibling at age 4 years had head circumference at the third percentile, the other had holoprosencephaly and head circumference was below the 3rd percentile for gestational age at birth. Compound het variants in PPP1R15B; c.63G>A (p.W21*), inherited from the father, and c.674delC (p.P225LfsX10), inherited from the mother. PubMed: 26159176 - Abdulkarim et al 2015 - report a homozygous c.1972C>T, p.R658C variant in PPP1R15B in two siblings from a consanguineous family of Algerian origin with young-onset diabetes, microcephaly, and short stature. First sibling had adult cranial perimeter: 46 cm, −4.0 SD. The sister had a similar presentation but was not available for detailed evaluation. PubMed: 26307080 - Kernohan et al 2015 - report a consanguineous family (enrolled in Canada) with severe microcephaly, short stature, hypoplastic brainstem and cord, delayed myelination and intellectual disability in two siblings and a homozygous c.1972G>A; p.R658C variant in PPP1R15B. First sibling had head circumference of 28.5 cm (−5.0 SD) at birth, second sibling had a head circumference of head circumference of 37 cm (−6 to −7 SD) at 15 months. |
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Severe microcephaly v2.147 | PPP1R15B | Eleanor Williams Phenotypes for gene: PPP1R15B were changed from Microcephaly, short stature, and impaired glucose metabolism 2, 616817; MSSGM2 to Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.146 | PPP1R15B | Eleanor Williams reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27640355, 26159176, 26307080; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, OMIM:616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v2.20 | PPP1R15B | Zornitza Stark reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: None; Publications: 27640355; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v1.62 | PPP1R15B | Louise Daugherty reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly v1.61 | PPP1R15B | Louise Daugherty Source NHS GMS was added to PPP1R15B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe microcephaly | PPP1R15B | Rebecca Foulger commented on PPP1R15B |