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Severe microcephaly v7.12 CCDC88A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC88A.
Severe microcephaly v7.12 CCDC88A Achchuthan Shanmugasundram reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v7.11 CCDC88A Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe microcephaly v7.4 CCDC88A Arina Puzriakova Publications for gene: CCDC88A were set to 26917597; 30392057
Severe microcephaly v7.3 CCDC88A Arina Puzriakova Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507; microcephaly to PEHO syndrome-like, OMIM:617507
Severe microcephaly v7.2 CCDC88A Arina Puzriakova Classified gene: CCDC88A as Amber List (moderate evidence)
Severe microcephaly v7.2 CCDC88A Arina Puzriakova Added comment: Comment on list classification: There are now at least 7 individuals from 4 unrelated families with biallelic variants in the CCDC88A gene (PMID: 26917597; 30392057; 37798908; 39334473), described to a PEHO-like syndrome with universal features including ID, epilepsy, microcephaly and optic nerve/cerebellar atrophy.

Sufficient unrelated cases with the same phenotype to promote this gene to green at the next GMS panel update.
Severe microcephaly v7.2 CCDC88A Arina Puzriakova Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Severe microcephaly v7.1 CCDC88A Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: CCDC88A.
Severe microcephaly v1.76 CCDC88A Louise Daugherty edited their review of gene: CCDC88A: Changed rating: AMBER
Severe microcephaly v1.76 CCDC88A Louise Daugherty Publications for gene: CCDC88A were set to
Severe microcephaly v1.75 CCDC88A Louise Daugherty Classified gene: CCDC88A as Amber List (moderate evidence)
Severe microcephaly v1.75 CCDC88A Louise Daugherty Added comment: Comment on list classification: Gene rated Amber- this rating was suggested in an email to the test group on 6th November after review by Genomics England clinical team review, and indicating if there were no further comments on the rating the gene would rated as per provisional suggestion as per recommended on the current evidence in the literature
Severe microcephaly v1.75 CCDC88A Louise Daugherty Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Severe microcephaly v1.74 CCDC88A Helen Brittain reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26917597, 30392057; Phenotypes: ?PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v1.61 CCDC88A Louise Daugherty Source NHS GMS was added to CCDC88A.
Severe microcephaly v1.55 CCDC88A Louise Daugherty Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507; microcephaly
Severe microcephaly v1.51 CCDC88A Louise Daugherty gene: CCDC88A was added
gene: CCDC88A was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88A were set to PEHO syndrome-like, 617507
Review for gene: CCDC88A was set to GREEN
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list