Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.170 MASP1 Achchuthan Shanmugasundram reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33765348, 36980886; Phenotypes: 3MC syndrome 1, OMIM:257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 MASP1 Eleanor Williams Tag Q3_21_rating was removed from gene: MASP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 MASP1 Eleanor Williams commented on gene: MASP1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 MASP1 Helen Lord reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21258343, 7677137, 29168297; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 MASP1 Helen Lord Deleted their review
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 MASP1 Helen Lord commented on gene: MASP1
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.40 MASP1 Eleanor Williams Classified gene: MASP1 as Amber List (moderate evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.40 MASP1 Eleanor Williams Added comment: Comment on list classification: Promoting from red to amber but with a green recommendation for GMS review. Publications from Basdemirci et al and Atik et al suggest further cases where craniosynostosis is a feature.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.40 MASP1 Eleanor Williams Gene: masp1 has been classified as Amber List (Moderate Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.39 MASP1 Eleanor Williams Phenotypes for gene: MASP1 were changed from 3MC syndrome 1 257920 to 3MC syndrome 1, OMIM:257920; 3MC syndrome 1, MONDO:0009770
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.38 MASP1 Eleanor Williams Publications for gene: MASP1 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.37 MASP1 Eleanor Williams Mode of inheritance for gene: MASP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.36 MASP1 Eleanor Williams Tag Q2_21_rating was removed from gene: MASP1.
Tag Q3_21_rating tag was added to gene: MASP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.36 MASP1 Eleanor Williams Tag Q2_21_rating tag was added to gene: MASP1.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.36 MASP1 Eleanor Williams edited their review of gene: MASP1: Added comment: Checking for further reported cases:

PMID: 30601195 - Basdemirci et al 2019 - 3 siblings with 3MC syndrome in which a novel homozygous missense mutation, p.V704G, in MASP1 was identified in 2 of the siblings (not clear if the 3rd sibling was analysed). Craniosynostosis/skull asymmetry is reported in 2 siblings but no details given.

PMID: 29407414 - Graul-Neumann et al 2018 - 1adult female with a homozygous 2kb deletion, partially affecting exon 12 of MASP1 found by trio exome sequencing. She has the characteristic facial gestalt and typical multiple congenital anomalies but lacking the key feature cleft lip and palate. At birth craniofacial dysmorphism with skull asymmetry, open sutura metopica and facial asymmetry were noted among other features.

PMID: 26419238 - Atik et al 2015 - report on 6 unrelated children with 3MC1 syndrome. Sanger sequencing of MASP1 found 2 different splice site variants, and 3 different missense variants in the 6 probands. Two are reported to have craniosynostosis/skull asymmetry but no details given.

No mention of craniosynostosis or skull asymmetry:

PMID: 21035106 - Sirmaci et al 2010 - 3 individuals from 2 consanguineous Turkish families with 3MC. A missense and nonsense mutation in MASP1 were found by WES and Sanger sequencing in the two families respectively. Craniosynostosis is NOT mentioned as part of the phenotype.; Changed publications to: 30601195, 29407414, 26419238, 21035106, 21258343, 26789649
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.9 MASP1 Zornitza Stark reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7677137, 21258343; Phenotypes: 3MC syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.0 MASP1 Eleanor Williams changed review comment from: PMID: 21258343 - Rooryck et al 2011 - report 1 patient with a homozygous MASP1variant ( c.1489 C>T, p.His497Tyr) that segregated with 3MC syndrome in the family. The patient's features included craniosynostosis.

PMID: 26789649 - Urquhart et al 2016 - report 2 patients with homozygous variants in MASP1 (c.760A>T,p.(Leu 254*) and c.547G>T, p(.Val 183Leu) ) who have plagiocephaly and turricephaly respectively, but they note that craniosynostosis was not observed.; to: PMID: 21258343 - Rooryck et al 2011 - report 1 patient with a homozygous MASP1variant ( c.1489 C>T, p.His497Tyr) that segregated with 3MC syndrome in the family. The patient's features included craniosynostosis.

PMID: 26789649 - Urquhart et al 2016 - report two 3MC syndrome patients with homozygous variants in MASP1 (c.760A>T,p.(Leu 254*) and c.547G>T, p(.Val 183Leu) ) who have plagiocephaly and turricephaly respectively, but they note that craniosynostosis was not observed.
Rare syndromic craniosynostosis or isolated multisuture synostosis v2.0 MASP1 Eleanor Williams commented on gene: MASP1: PMID: 21258343 - Rooryck et al 2011 - report 1 patient with a homozygous MASP1variant ( c.1489 C>T, p.His497Tyr) that segregated with 3MC syndrome in the family. The patient's features included craniosynostosis.

PMID: 26789649 - Urquhart et al 2016 - report 2 patients with homozygous variants in MASP1 (c.760A>T,p.(Leu 254*) and c.547G>T, p(.Val 183Leu) ) who have plagiocephaly and turricephaly respectively, but they note that craniosynostosis was not observed.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 MASP1 Eleanor Williams Added phenotypes 3MC syndrome 1 257920 for gene: MASP1
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 MASP1 Tracy Lester reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 3MC syndrome 1 - 257920; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 MASP1 Eleanor Williams reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 MASP1 Eleanor Williams gene: MASP1 was added
gene: MASP1 was added to Craniosynostosis. Sources: NHS GMS
Mode of inheritance for gene: MASP1 was set to