Activity
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| Malformations of cortical development v8.16 | TMEM161B |
Ida Ertmanska changed review comment from: PMID: 36669109 Wang et al., 2023 Study of a polymicrogyria (PMG) cohort identified four families with affected children showing nearly identical neocortical PMG. Brain imaging in each showed dramatic symmetrical PMG, without a clear lobar or regional predominance. WES revealed homozygous variants in TMEM161B: c.949C>T; p.W317R in Families I & II, and c.254T>G; p.L85R in Families III and IV. All 4 families were from Egypt and had consanguinity reported. Parents unaffected. Mild microcephaly reported at birth (HC -0.5 to -1.5 SD), progressing to severe at last examination in all 4 probands (head circumference -3 to -4.5 SD). Intellectual disability was moderate to profound. PMID: 37486637 Akula et al., 2023 Proband BFP903-905 - comp het for TMEM161B variants: c.362C>T p.Thr121Ile & c.580G>A p.Glu194Lys. Diffuse PMG, bilateral (neuropathologic examination) of BFP906, 903-905 similar clinical syndrome with no imaging. Head circumference unknown. Same variants as third family in PMID: 36669111 (same research group) - likely the same proband. TMEM161B is not yet associated with a phenotype in OMIM (accessed 3rd Nov 2026).; to: PMID: 36669109 Wang et al., 2023 Study of a polymicrogyria (PMG) cohort identified four families with affected children showing nearly identical neocortical PMG. Brain imaging in each showed dramatic symmetrical PMG, without a clear lobar or regional predominance. WES revealed homozygous variants in TMEM161B: c.949C>T; p.W317R in Families I & II, and c.254T>G; p.L85R in Families III and IV. All 4 families were from Egypt and had consanguinity reported. Parents unaffected. Mild microcephaly reported at birth (HC -0.5 to -1.5 SD), progressing to severe at last examination in all 4 probands (head circumference -3 to -4.5 SD). Intellectual disability was moderate to profound. PMID: 37486637 Akula et al., 2023 Proband BFP903-905 - comp het for TMEM161B variants: c.362C>T p.Thr121Ile & c.580G>A p.Glu194Lys. Diffuse PMG, bilateral (neuropathologic examination) of BFP906, 903-905 similar clinical syndrome with no imaging. Head circumference unknown. Same variants as third family in PMID: 36669111 (same research group) - likely the same proband. |
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| Malformations of cortical development v8.16 | TMEM161B |
Ida Ertmanska changed review comment from: PMID: 36669109 Wang et al., 2023 Study of a polymicrogyria (PMG) cohort identified four families with affected children showing nearly identical neocortical PMG. Brain imaging in each showed dramatic symmetrical PMG, without a clear lobar or regional predominance. WES revealed homozygous variants in TMEM161B: c.949C>T; p.W317R in Families I & II, and c.254T>G; p.L85R in Families III and IV. All 4 families were from Egypt and had consanguinity reported. Parents unaffected. Mild microcephaly reported at birth (HC -0.5 to -1.5 SD), progressing to severe at last examination in all 4 probands (head circumference -3 to -4.5 SD). Intellectual disability was moderate to profound.; to: PMID: 36669109 Wang et al., 2023 Study of a polymicrogyria (PMG) cohort identified four families with affected children showing nearly identical neocortical PMG. Brain imaging in each showed dramatic symmetrical PMG, without a clear lobar or regional predominance. WES revealed homozygous variants in TMEM161B: c.949C>T; p.W317R in Families I & II, and c.254T>G; p.L85R in Families III and IV. All 4 families were from Egypt and had consanguinity reported. Parents unaffected. Mild microcephaly reported at birth (HC -0.5 to -1.5 SD), progressing to severe at last examination in all 4 probands (head circumference -3 to -4.5 SD). Intellectual disability was moderate to profound. PMID: 37486637 Akula et al., 2023 Proband BFP903-905 - comp het for TMEM161B variants: c.362C>T p.Thr121Ile & c.580G>A p.Glu194Lys. Diffuse PMG, bilateral (neuropathologic examination) of BFP906, 903-905 similar clinical syndrome with no imaging. Head circumference unknown. Same variants as third family in PMID: 36669111 (same research group) - likely the same proband. TMEM161B is not yet associated with a phenotype in OMIM (accessed 3rd Nov 2026). |
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| Malformations of cortical development v8.16 | TMEM161B | Ida Ertmanska changed review comment from: Comment on list classification: There are more than 3 unrelated probands reported in literature with biallelic TMEM161B variants and polymicrogyria. Hence, this gene can be promoted to Green on Malformations of cortical development.; to: Comment on list classification: As reviewed by Alexandra Njegic, there are more than 3 unrelated probands reported in literature with biallelic TMEM161B variants and polymicrogyria. The TMEM161B null mouse model is also supportive of this association. Hence, this gene can be promoted to Green on Malformations of cortical development. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.16 | TMEM161B | Ida Ertmanska changed review comment from: Comment on phenotypes: TMEM161B is not yet associated with a phenotype in OMIM.; to: Comment on phenotypes: TMEM161B is not yet associated with a phenotype in OMIM (accessed 3rd Nov 2026). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.16 | TMEM161B | Ida Ertmanska Tag Q4_26_promote_green tag was added to gene: TMEM161B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.16 | TMEM161B | Ida Ertmanska Added comment: Comment on phenotypes: TMEM161B is not yet associated with a phenotype in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.16 | TMEM161B | Ida Ertmanska Phenotypes for gene: TMEM161B were changed from pol to polymicrogyria, MONDO:0000087; microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.15 | TMEM161B | Ida Ertmanska Publications for gene: TMEM161B were set to 36669111; 38593811; 37486637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.14 | TMEM161B | Ida Ertmanska Classified gene: TMEM161B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.14 | TMEM161B | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 unrelated probands reported in literature with biallelic TMEM161B variants and polymicrogyria. Hence, this gene can be promoted to Green on Malformations of cortical development. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.14 | TMEM161B | Ida Ertmanska Gene: tmem161b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.13 | TMEM161B | Ida Ertmanska reviewed gene: TMEM161B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36669109, 36669111, 38593811, 37486637; Phenotypes: polymicrogyria, MONDO:0000087, microcephaly, MONDO:0001149; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.11 | TMEM161B | Alexandra Njegic reviewed gene: TMEM161B: Rating: AMBER; Mode of pathogenicity: None; Publications: 36669111, 38593811, 37486637; Phenotypes: Polymicrogyria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v8.11 | TMEM161B |
Alexandra Njegic gene: TMEM161B was added gene: TMEM161B was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: TMEM161B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM161B were set to 36669111; 38593811; 37486637 Phenotypes for gene: TMEM161B were set to pol Penetrance for gene: TMEM161B were set to unknown |
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